R99G (p.Arg99Gly) variant of HTT (Huntingtin)
R99G (p.Arg99Gly) 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 structural context.
R99G (p.Arg99Gly) variant details
- p.Arg99Gly
- rs770370500
- ClinGen CA356081906
- ClinVar RCV002040542
- ExAC rs770370500
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.89
- MetaLR 0.44
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available