K22N (p.Lys22Asn) variant of NPHS2 (Podocin)
K22N (p.Lys22Asn) 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.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- ExAC rs768283220
- TOPMed rs768283220
- gnomAD rs768283220
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- CADD 9.91
- PolyPhen-2 0.04
- SIFT 0.14
- Population evidence available
- Structural context available