R3C (p.Arg3Cys) variant of ALDH2 (P05091)
R3C (p.Arg3Cys) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- TOPMed rs1373907435
- gnomAD rs1373907435
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.25
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 7e-05)
- Structural context available