I367T (p.Ile367Thr) variant of FKRP (Q9H9S5)
I367T (p.Ile367Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
I367T (p.Ile367Thr) variant details
- p.Ile367Thr
- rs1555739020
- ClinGen CA406496647
- ClinVar RCV000527187
- ClinVar RCV001093245
- Pathogenic
- Walker-Warburg congenital muscular dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 26.80
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Pathogenic (Walker-Warburg congenital muscular dystrophy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available