G13A (p.Gly13Ala) variant of ALDH2 (P05091)
G13A (p.Gly13Ala) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 12-111767017-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available