G4V (p.Gly4Val) variant of NPHS1 (Nephrin)
G4V (p.Gly4Val) in NPHS1 (Nephrin) 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 0.23 / 1. The record also includes population frequency data and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 3.96
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available