A6S (p.Ala6Ser) variant of ALDH2 (P05091)
A6S (p.Ala6Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- TOPMed rs1336401827
- gnomAD rs1336401827
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.10
- CADD 2.08
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 8.4e-06)
- Structural context available