R36S (p.Arg36Ser) variant of NPHS2 (Podocin)
R36S (p.Arg36Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- ExAC rs779357846
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available