A6P (p.Ala6Pro) variant of ALDH2 (P05091)
A6P (p.Ala6Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- TOPMed rs1336401827
- gnomAD rs1336401827
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.22
- CADD 9.71
- PolyPhen-2 0.34
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available