M7L (p.Met7Leu) variant of GNAQ (P50148)
M7L (p.Met7Leu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M7L (p.Met7Leu) variant details
- p.Met7Leu
- ExAC rs757711264
- TOPMed rs757711264
- gnomAD rs757711264
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.33
- MetaLR 0.49
- MetaSVM -0.24
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available