R38H (p.Arg38His) variant of NPHS2 (Podocin)
R38H (p.Arg38His) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- ExAC rs762145203
- TOPMed rs762145203
- gnomAD rs762145203
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.28
- CADD 1.88
- PolyPhen-2 0.07
- SIFT 0.24
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available