G38E (p.Gly38Glu) variant of FKRP (Q9H9S5)
G38E (p.Gly38Glu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs1599933942
- ClinGen CA406494692
- ClinVar RCV000801890
- Ensembl rs1599933942
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.40
- CADD 12.80
- PolyPhen-2 0.03
- SIFT 0.66
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available