S122P (p.Ser122Pro) variant of GNAQ (P50148)
S122P (p.Ser122Pro) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S122P (p.Ser122Pro) variant details
- p.Ser122Pro
- TOPMed rs1163999044
- gnomAD rs1163999044
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.32
- MetaLR 0.54
- MetaSVM -0.20
- CADD 17.70
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available