I5V (p.Ile5Val) variant of ALDH5A1 (P51649)
I5V (p.Ile5Val) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- rs200398000
- ClinGen CA3656550
- ClinVar RCV000525342
- ClinVar RCV000678774
- Conflicting interpretations
- not specified; not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.05
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Succinate-semialdehyde dehydrogenas)
- EBI: Likely benign
- UniProt: Likely benign
- 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)