R10S (p.Arg10Ser) variant of NPHS2 (Podocin)
R10S (p.Arg10Ser) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- ExAC rs767916334
- gnomAD rs767916334
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.59
- CADD 12.60
- PolyPhen-2 0.95
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00012)
- Structural context available