R48S (p.Arg48Ser) variant of FKRP (Q9H9S5)
R48S (p.Arg48Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
R48S (p.Arg48Ser) variant details
- p.Arg48Ser
- rs2054892239
- ClinGen CA406494742
- ClinVar RCV001320835
- Ensembl rs2054892239
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.54
- CADD 14.90
- PolyPhen-2 0.13
- SIFT 0.57
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available