R26K (p.Arg26Lys) variant of NPHS2 (Podocin)
R26K (p.Arg26Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- cosmic curated COSV10528
- 1000Genomes rs530691832
- ExAC rs530691832
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.18
- CADD 1.67
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available