L15R (p.Leu15Arg) variant of ALDH5A1 (P51649)
L15R (p.Leu15Arg) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs535285968
- ClinGen CA3656562
- ClinVar RCV001038639
- ClinVar RCV004629404
- Uncertain significance
- Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -0.89
- CADD 17.30
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)