Q30H (p.Gln30His) variant of ALDH2 (P05091)
Q30H (p.Gln30His) in ALDH2 (P05091) is a missense change. Clinical records from ClinVar, EBI, 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 0.25 / 1. The record also includes population frequency data and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- rs2542330746
- ClinGen CA386739010
- ClinVar RCV004287118
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available