R339P (p.Arg339Pro) variant of FKRP (Q9H9S5)
R339P (p.Arg339Pro) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
R339P (p.Arg339Pro) variant details
- p.Arg339Pro
- rs1450841129
- ClinGen CA406496475
- ClinVar RCV003755680
- gnomAD rs1450841129
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.93
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.86
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic (in MDDGC5)
- UniProt: Likely pathogenic (in MDDGC5)
- Structural context available