Y307N (p.Tyr307Asn) variant of FKRP (Q9H9S5)
Y307N (p.Tyr307Asn) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y307N (p.Tyr307Asn) variant details
- p.Tyr307Asn
- rs104894692
- ClinGen CA116724
- ClinVar RCV000004454
- ClinVar RCV000004455
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.85
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; Autosomal recessiv)
- EBI: Pathogenic (in MDDGC5 and MDDGA5)
- UniProt: Pathogenic (in MDDGC5 and MDDGA5)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations in the fukutin-related protein gene. (PMID 12666124)
- Cited in: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (PMID 15121789)