E108K (p.Glu108Lys) variant of NPHS1 (Nephrin)
E108K (p.Glu108Lys) in NPHS1 (Nephrin) 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 0.24 / 1. The record also includes population frequency data and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- NCI-TCGA Cosmic COSV6229
- cosmic curated COSV62290
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 10.10
- PolyPhen-2 0.07
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available