V100A (p.Val100Ala) variant of HTT (Huntingtin)
V100A (p.Val100Ala) in HTT (Huntingtin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
V100A (p.Val100Ala) variant details
- p.Val100Ala
- NCI-TCGA TCGA novel
- Ensembl rs1578486196
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.37
- MetaSVM -0.42
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available