P28S (p.Pro28Ser) variant of ALDH2 (P05091)
P28S (p.Pro28Ser) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD 12-111767064-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.34
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available