M90V (p.Met90Val) variant of GNAQ (P50148)
M90V (p.Met90Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M90V (p.Met90Val) variant details
- p.Met90Val
- Ensembl rs1829009245
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- MetaLR 0.55
- MetaSVM -0.11
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available