NRAP p.Val191=
c.573G>A · rs117582231 · VCV3056292
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 10.7%, mid) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Pangolin | Δ0.20 | loss · gain 0.12 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.033 | GERP 1.4, phastCons 0.82 |
| Overall | ||
| CADD | 14.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
10.7%
Middle Eastern · 647/6,022 alleles
Filtering AF
10.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.79%
Overall
3.6%
57,521/1,598,652 alleles · common
exomes 53,002/1,446,450 · genomes 4,519/152,202 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 10.7% | 9 |
| Ashkenazi Jewishnot grpmax-eligible | 8.12% | 12 |
| Amishnot grpmax-eligible | 7.8% | 13 |
| Remaining individualsnot grpmax-eligible | 4.15% | 24 |
| European (non-Finnish) | 3.92% | 25 |
| South Asian | 2.94% | 34 |
| Admixed American | 2.79% | 36 |
| Finnishnot grpmax-eligible | 1.82% | 55 |
| African / African-American | 0.782% | 128 |
| East Asian | 0.0134% | 7,468 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- NRAP
- Protein
- p.Val191=
- Coding
- c.573G>A
- MANE Select
- NM_198060
- dbSNP
- rs117582231
- Type
- single nucleotide variant
- Location
- chr10:113651905 (GRCh38)
- Gene constraint
- LOEUF 1.045 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 51.98
Similar variants
- NRAP p.Arg1037Ter Pathogenic/Likely pathogenic ★★ same type
- NRAP p.Trp1033Ter Pathogenic/Likely pathogenic ★★ same type
- NRAP c.360+1G>A Uncertain significance ★★ same type
- NRAP p.Ala29Gly Uncertain significance ★★ ⚠ same type
- NRAP p.Ala571Thr Uncertain significance ★★ same type
- NRAP p.Arg1330Gln Uncertain significance ★★ ⚠ same type
- NRAP p.Arg1559Gln Uncertain significance ★★ ⚠ same type
- NRAP p.Arg428Cys Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/nrap-p-val191 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown