R3S (p.Arg3Ser) variant of ALDH2 (P05091)
R3S (p.Arg3Ser) 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.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- TOPMed rs1373907435
- gnomAD rs1373907435
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.19
- CADD 23.20
- PolyPhen-2 0.81
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available