E40K (p.Glu40Lys) variant of GALT (P07902)
E40K (p.Glu40Lys) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs886042060
- ClinGen CA10603758
- ClinVar RCV000591981
- Ensembl rs886042060
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.72
- CADD 29.50
- PolyPhen-2 0.27
- SIFT 0.06
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available