S17L (p.Ser17Leu) variant of ALDH5A1 (P51649)
S17L (p.Ser17Leu) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Succinate-semialdehyde dehydrogenase defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- rs753168976
- ClinGen CA3656563
- cosmic curated COSV62374
- ClinVar RCV000331869
- Uncertain significance
- Inborn genetic diseases; not provided; Succinate-semialdehyde dehydrogenase defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0958
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -0.99
- CADD 2.70
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Succinate-semialdehyde de)
- 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)