Y103C (p.Tyr103Cys) variant of GNAQ (P50148)
Y103C (p.Tyr103Cys) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y103C (p.Tyr103Cys) variant details
- p.Tyr103Cys
- Ensembl rs77227613
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.40
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available