R339S (p.Arg339Ser) variant of FKRP (Q9H9S5)
R339S (p.Arg339Ser) 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 0.72 / 1. The record also includes population frequency data and structural context.
R339S (p.Arg339Ser) variant details
- p.Arg339Ser
- rs2122629515
- ClinGen CA406496473
- ClinVar RCV001970317
- Ensembl rs2122629515
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.78
- CADD 23.80
- PolyPhen-2 0.58
- SIFT 0.06
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance (in MDDGC5)
- UniProt: Uncertain significance (in MDDGC5)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available