S134N (p.Ser134Asn) variant of GNAQ (P50148)
S134N (p.Ser134Asn) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S134N (p.Ser134Asn) variant details
- p.Ser134Asn
- ExAC rs748011987
- TOPMed rs748011987
- gnomAD rs748011987
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.36
- MetaLR 0.54
- MetaSVM -0.19
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available