R7L (p.Arg7Leu) variant of ALDH2 (P05091)
R7L (p.Arg7Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- cosmic curated COSV55665
- 1000Genomes rs566590864
- ExAC rs566590864
- TOPMed rs566590864
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.17
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available