Q28E (p.Gln28Glu) variant of FKRP (Q9H9S5)
Q28E (p.Gln28Glu) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- rs1060502110
- ClinGen CA16616295
- ClinVar RCV000467867
- ClinVar RCV000594457
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.51
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available