A42G (p.Ala42Gly) variant of FKRP (Q9H9S5)
A42G (p.Ala42Gly) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- rs768215450
- ClinGen CA9532115
- ClinVar RCV001048305
- ClinVar RCV004031500
- Conflicting interpretations
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.21
- CADD 4.87
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Conflicting classifications of pathogenicity (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available