A27V (p.Ala27Val) variant of GNAT1 (P11488)
A27V (p.Ala27Val) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD rs1165407105
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.60
- CADD 23.90
- PolyPhen-2 0.68
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available