P20S (p.Pro20Ser) variant of ALDH5A1 (P51649)
P20S (p.Pro20Ser) in ALDH5A1 (P51649) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- gnomAD rs1561865558
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.96
- CADD 6.67
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available