P20A (p.Pro20Ala) variant of ALDH5A1 (P51649)
P20A (p.Pro20Ala) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs1561865558
- ClinGen CA362968151
- ClinVar RCV001371912
- gnomAD rs1561865558
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.95
- CADD 6.49
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)