M129V (p.Met129Val) variant of HTT (Huntingtin)
M129V (p.Met129Val) in HTT (Huntingtin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M129V (p.Met129Val) variant details
- p.Met129Val
- rs77742164
- ClinGen CA2823205
- ClinVar RCV001888538
- 1000Genomes rs77742164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.32
- MetaLR 0.26
- MetaSVM -0.72
- PolyPhen-2 0.78
- SIFT 0.04
- EVE 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available