M90I (p.Met90Ile) variant of GNAQ (P50148)
M90I (p.Met90Ile) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M90I (p.Met90Ile) variant details
- p.Met90Ile
- Ensembl rs1829009179
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.48
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available