G15V (p.Gly15Val) variant of NPHS1 (Nephrin)
G15V (p.Gly15Val) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- rs373782564
- ESP rs373782564
- ExAC rs373782564
- TOPMed rs373782564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.12
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available