A128T (p.Ala128Thr) variant of HTT (Huntingtin)
A128T (p.Ala128Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- rs1160407584
- NCI-TCGA Cosmic COSV6187
- TOPMed rs1160407584
- gnomAD rs1160407584
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.74
- MetaLR 0.40
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available