M87I (p.Met87Ile) variant of GNAQ (P50148)
M87I (p.Met87Ile) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M87I (p.Met87Ile) variant details
- p.Met87Ile
- Ensembl rs1829009386
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.34
- MetaLR 0.44
- MetaSVM -0.42
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available