A131T (p.Ala131Thr) variant of GNAQ (P50148)
A131T (p.Ala131Thr) in GNAQ (P50148) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
A131T (p.Ala131Thr) variant details
- p.Ala131Thr
- Ensembl rs2118510684
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- MetaLR 0.75
- MetaSVM 0.58
- CADD 25.60
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available