R36H (p.Arg36His) variant of NPHS2 (Podocin)
R36H (p.Arg36His) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- ExAC rs755338607
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available