I132V (p.Ile132Val) variant of GNAQ (P50148)
I132V (p.Ile132Val) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I132V (p.Ile132Val) variant details
- p.Ile132Val
- gnomAD rs1827001585
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- MetaLR 0.70
- MetaSVM 0.20
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available