A5V (p.Ala5Val) variant of NPHS2 (Podocin)
A5V (p.Ala5Val) in NPHS2 (Podocin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- TOPMed rs1213377429
- gnomAD rs1213377429
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.46
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available