G288S (p.Gly288Ser) variant of FKRP (Q9H9S5)
G288S (p.Gly288Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Walker-Warburg congenital muscular dystrophy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G288S (p.Gly288Ser) variant details
- p.Gly288Ser
- TOPMed rs1222837977
- gnomAD rs1222837977
- Conflicting interpretations
- Walker-Warburg congenital muscular dystrophy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Walker-Warburg congenital muscular dystrophy; not specified)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available