R339G (p.Arg339Gly) variant of FKRP (Q9H9S5)
R339G (p.Arg339Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R339G (p.Arg339Gly) variant details
- p.Arg339Gly
- rs2122629515
- ClinGen CA406496471
- ClinVar RCV002300345
- ClinVar RCV005409873
- Conflicting interpretations
- Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.86
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Walker-Warburg congenital muscular dystrophy; Autosomal recessiv)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Most common in the HGDP:BURUSHO population (allele frequency 0.022)
- Structural context available