V64M (p.Val64Met) variant of NPHS2 (Podocin)
V64M (p.Val64Met) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V64M (p.Val64Met) variant details
- p.Val64Met
- TOPMed rs1334989339
- gnomAD rs1334989339
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available