G288R (p.Gly288Arg) variant of FKRP (Q9H9S5)
G288R (p.Gly288Arg) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar 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 0.78 / 1. The record also includes population frequency data and structural context.
G288R (p.Gly288Arg) variant details
- p.Gly288Arg
- TOPMed rs1222837977
- gnomAD rs1222837977
- Likely pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.86
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Walker-Warburg congenital muscular dystrophy)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available