A61V (p.Ala61Val) variant of NPHS1 (Nephrin)
A61V (p.Ala61Val) 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 0.06 / 1. The record also includes population frequency data and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs116620503
- ClinGen CA9390890
- cosmic curated COSV62287
- ClinVar RCV002127686
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0622
- REVEL 0.05
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0012)
- Structural context available