M145V (p.Met145Val) variant of HTT (Huntingtin)
M145V (p.Met145Val) 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 0.53 / 1. The record also includes population frequency data and structural context.
M145V (p.Met145Val) variant details
- p.Met145Val
- rs953390305
- ClinGen CA356088622
- ClinVar RCV001864129
- Ensembl rs953390305
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.67
- MetaLR 0.43
- MetaSVM -0.17
- PolyPhen-2 0.89
- SIFT 0.01
- EVE 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available