A22V (p.Ala22Val) variant of NPHS1 (Nephrin)
A22V (p.Ala22Val) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Finnish congenital nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs116617171
- ClinGen CA9390924
- cosmic curated COSV62288
- ClinVar RCV000490334
- Conflicting interpretations
- not provided; not specified; Finnish congenital nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Finnish congenital nephrotic syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.11)
- Structural context available
- Cited in: Genetic Steroid-Resistant Nephrotic Syndrome Overview. (PMID 34436835)