P69L (p.Pro69Leu) variant of HTT (Huntingtin)
P69L (p.Pro69Leu) 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 0.31 / 1. The record also includes structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs1461748315
- gnomAD rs1461748315
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.28
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available