M59L (p.Met59Leu) variant of GNAQ (P50148)
M59L (p.Met59Leu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M59L (p.Met59Leu) variant details
- p.Met59Leu
- ExAC rs773781296
- gnomAD rs773781296
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.83
- MetaLR 0.81
- MetaSVM 0.77
- CADD 25.80
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available