G54V (p.Gly54Val) variant of NPHS1 (Nephrin)
G54V (p.Gly54Val) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- ESP rs369112617
- TOPMed rs369112617
- gnomAD rs369112617
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.94
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available