P10R (p.Pro10Arg) variant of ALDH2 (P05091)
P10R (p.Pro10Arg) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- TOPMed rs1286567155
- gnomAD rs1286567155
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.26
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available