S15L (p.Ser15Leu) variant of GALT (P07902)
S15L (p.Ser15Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Deficiency of UDPglucose-hexose-1-phosph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- rs759270191
- ClinGen CA5035994
- ClinVar RCV001462608
- ClinVar RCV002271654
- Conflicting interpretations
- Inborn genetic diseases; not specified; Deficiency of UDPglucose-hexose-1-phosph
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.40
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Deficiency of UDPglucose)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00022)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)