D23N (p.Asp23Asn) variant of GNAQ (P50148)
D23N (p.Asp23Asn) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- Ensembl rs2118632321
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- MetaLR 0.50
- MetaSVM -0.21
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available