H109N (p.His109Asn) variant of GNAQ (P50148)
H109N (p.His109Asn) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H109N (p.His109Asn) variant details
- p.His109Asn
- gnomAD rs1288502233
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.39
- MetaLR 0.39
- MetaSVM -0.52
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available