E149K (p.Glu149Lys) variant of HTT (Huntingtin)
E149K (p.Glu149Lys) 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 0.58 / 1. The record also includes population frequency data and structural context.
E149K (p.Glu149Lys) variant details
- p.Glu149Lys
- rs1440430798
- NCI-TCGA Cosmic COSV1044
- gnomAD rs1440430798
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available