A27S (p.Ala27Ser) variant of ALDH2 (P05091)
A27S (p.Ala27Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- TOPMed rs1356795930
- gnomAD rs1356795930
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.14
- CADD 8.72
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available