H105D (p.His105Asp) variant of GNAQ (P50148)
H105D (p.His105Asp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H105D (p.His105Asp) variant details
- p.His105Asp
- TOPMed rs1438658973
- gnomAD rs1438658973
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.31
- MetaLR 0.25
- MetaSVM -0.64
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available