NASP p.Pro195=
c.585A>C · rs112075833 · VCV714067
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.95%, afr)
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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.82 | GERP 2.5 |
| Overall | ||
| CADD | 7.081 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.95%
African / African-American · 713/75,050 alleles
Filtering AF
0.892%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.869%
Overall
0.0509%
821/1,614,012 alleles · rare
exomes 430/1,461,662 · genomes 391/152,350 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.95% | 105 |
| Remaining individualsnot grpmax-eligible | 0.0912% | 1,096 |
| Admixed American | 0.055% | 1,819 |
| South Asian | 0.00769% | 13,012 |
| European (non-Finnish) | 0.000932% | 107,271 |
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
- NASP
- Protein
- p.Pro195=
- Coding
- c.585A>C
- MANE Select
- NM_002482
- dbSNP
- rs112075833
- Type
- single nucleotide variant
- Location
- chr1:45607496 (GRCh38)
- Gene constraint
- LOEUF 0.394 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 58.07 · 5 PDB
- Residue 195
- the 'disordered' region
Similar variants
- NASP p.Ala18Asp Uncertain significance ★ ⚠ same type
- NASP p.Ala18Pro Uncertain significance ★ ⚠ same type
- NASP p.Ala217Val Uncertain significance ★ ⚠ same type
- NASP p.Ala328Gly Uncertain significance ★ ⚠ same type
- NASP p.Ala354Gly Uncertain significance ★ ⚠ same type
- NASP p.Ala356Gly Uncertain significance ★ ⚠ same type
- NASP p.Ala542Thr Uncertain significance ★ ⚠ same type
- NASP p.Ala779Pro 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/nasp-p-pro195 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown