R15del (p.Arg15del) variant of ALDH2 (P05091)
R15del (p.Arg15del) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R15del (p.Arg15del) variant details
- rs764941692
- gnomAD 12-111767019-GGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available