M87V (p.Met87Val) variant of GNAQ (P50148)
M87V (p.Met87Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M87V (p.Met87Val) variant details
- p.Met87Val
- ExAC rs778978521
- TOPMed rs778978521
- gnomAD rs778978521
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.46
- MetaLR 0.59
- MetaSVM -0.04
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available