G13S (p.Gly13Ser) variant of ALDH2 (P05091)
G13S (p.Gly13Ser) in ALDH2 (P05091) is a missense 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.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- gnomAD 12-111767019-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Literature evidence available