A21S (p.Ala21Ser) variant of ALDH2 (P05091)
A21S (p.Ala21Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 12-111767043-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.18
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available