R13S (p.Arg13Ser) variant of NPHS2 (Podocin)
R13S (p.Arg13Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- Ensembl rs866704941
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.44
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available