NRAP p.Val207fs
c.619del · VCV3346392
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 42 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,613,398). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- NRAP
- Protein
- p.Val207fs
- Coding
- c.619del
- MANE Select
- NM_198060
- Type
- Deletion
- Location
- chr10:113651859 (GRCh38)
- Gene constraint
- LOEUF 1.045 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 51.98
Disease context
Similar variants
- NRAP p.Val207= Likely benign same residue
- NRAP p.Lys183fs Likely pathogenic ★ same condition
- NRAP p.Thr1458fs Pathogenic ★ same condition
- NRAP p.Thr987fs Likely pathogenic ★ same condition
- NRAP p.Arg1037Ter Pathogenic/Likely pathogenic ★★ same condition
- NRAP p.Trp1033Ter Pathogenic/Likely pathogenic ★★ same condition
- NRAP c.1843-2A>G Likely pathogenic ★ same condition
- NRAP p.Gln24His Pathogenic ★ same condition
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-val207fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown