E91K (p.Glu91Lys) variant of NPHS2 (Podocin)
E91K (p.Glu91Lys) in NPHS2 (Podocin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.62
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available