N106S (p.Asn106Ser) variant of GNAQ (P50148)
N106S (p.Asn106Ser) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N106S (p.Asn106Ser) variant details
- p.Asn106Ser
- gnomAD rs1829007782
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.47
- MetaLR 0.60
- MetaSVM -0.02
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available