E102K (p.Glu102Lys) variant of NPHS2 (Podocin)
E102K (p.Glu102Lys) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs1553315157
- ClinGen CA343571048
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.16
- EVE 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available