C6R (p.Cys6Arg) variant of FKRP (Q9H9S5)
C6R (p.Cys6Arg) 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. 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.
C6R (p.Cys6Arg) variant details
- p.Cys6Arg
- rs2122606907
- ClinGen CA406494496
- ClinVar RCV001962642
- Ensembl rs2122606907
- Uncertain significance
- Cardiovascular phenotype; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.72
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Walker-Warburg congenital muscular dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available