I367N (p.Ile367Asn) variant of FKRP (Q9H9S5)
I367N (p.Ile367Asn) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
I367N (p.Ile367Asn) variant details
- p.Ile367Asn
- rs1555739020
- ClinGen CA406496646
- ClinVar RCV002672165
- Pathogenic
- Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- CADD 29.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available