A20S (p.Ala20Ser) variant of ALDH2 (P05091)
A20S (p.Ala20Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 12-111767040-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available