L16R (p.Leu16Arg) variant of ALDH2 (P05091)
L16R (p.Leu16Arg) in ALDH2 (P05091) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- gnomAD rs916384497
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available