G11E (p.Gly11Glu) variant of ALDH5A1 (P51649)
G11E (p.Gly11Glu) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- rs373315916
- ClinGen CA3656557
- cosmic curated COSV62372
- ClinVar RCV000733275
- Conflicting interpretations
- not provided; Succinate-semialdehyde dehydrogenase deficiency; Inborn genetic di
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -1.01
- CADD 7.91
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (not provided; Succinate-semialdehyde dehydrogenase deficiency; I)
- 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)