E11K (p.Glu11Lys) variant of NPHS2 (Podocin)
E11K (p.Glu11Lys) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- cosmic curated COSV10085
- 1000Genomes rs532992157
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.43
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available