P127S (p.Pro127Ser) variant of GNAQ (P50148)
P127S (p.Pro127Ser) 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.
P127S (p.Pro127Ser) variant details
- p.Pro127Ser
- gnomAD rs1827001841
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- MetaLR 0.44
- MetaSVM -0.38
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available