L62M (p.Leu62Met) variant of GALT (P07902)
L62M (p.Leu62Met) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of GALT POLYMORPHISM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
L62M (p.Leu62Met) variant details
- p.Leu62Met
- rs1800461
- ClinGen CA116378
- ClinVar RCV000003796
- UniProt VAR 002555
- Benign
- GALT POLYMORPHISM
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.10
- MetaLR 0.91
- MetaSVM 0.73
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.13
- ClinVar: Benign (GALT POLYMORPHISM)
- EBI: Benign (in dbSNP:rs1800461)
- UniProt: Benign (in dbSNP:rs1800461)
- Structural context available
- Cited in: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate… (PMID 2011574)