P20Q (p.Pro20Gln) variant of ALDH5A1 (P51649)
P20Q (p.Pro20Gln) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 6-24495050-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available