H11Y (p.His11Tyr) variant of GNAT1 (P11488)
H11Y (p.His11Tyr) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- gnomAD rs1377171417
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available