Q23P (p.Gln23Pro) variant of ALDH2 (P05091)
Q23P (p.Gln23Pro) 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, published literature, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- gnomAD 12-111767050-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.13
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available