D137G (p.Asp137Gly) variant of HTT (Huntingtin)
D137G (p.Asp137Gly) 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 0.43 / 1. The record also includes structural context.
D137G (p.Asp137Gly) variant details
- p.Asp137Gly
- rs988441501
- ClinGen CA91446273
- ClinVar RCV002014242
- TOPMed rs988441501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.63
- MetaLR 0.21
- MetaSVM -0.80
- PolyPhen-2 0.23
- SIFT 0.02
- EVE 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available