R352P (p.Arg352Pro) variant of FKRP (Q9H9S5)
R352P (p.Arg352Pro) 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 0.90 / 1. The record also includes population frequency data and structural context.
R352P (p.Arg352Pro) variant details
- p.Arg352Pro
- rs2513996082
- ClinGen CA406496551
- ClinVar RCV002632739
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available