A25V (p.Ala25Val) variant of NPHS1 (Nephrin)
A25V (p.Ala25Val) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs368988883
- ClinGen CA9390921
- cosmic curated COSV10466
- ClinVar RCV003562039
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0832
- REVEL 0.08
- CADD 4.76
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available