E130K (p.Glu130Lys) variant of HTT (Huntingtin)
E130K (p.Glu130Lys) in HTT (Huntingtin) 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 0.55 / 1. The record also includes population frequency data and structural context.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- rs1303509203
- NCI-TCGA Cosmic COSV6187
- gnomAD rs1303509203
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.74
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available