R14G (p.Arg14Gly) variant of ALDH2 (P05091)
R14G (p.Arg14Gly) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD rs2068163225
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.26
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available