S12N (p.Ser12Asn) variant of GNAQ (P50148)
S12N (p.Ser12Asn) 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.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- Ensembl rs1824054104
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.47
- MetaLR 0.66
- MetaSVM 0.25
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available