R11R (p.Arg11Arg) variant of ALDH2 (P05091)
R11R (p.Arg11Arg) in ALDH2 (P05091) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R11R (p.Arg11Arg) variant details
- p.Arg11Arg
- gnomAD 12-111767015-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 6.82
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available