A8T (p.Ala8Thr) variant of FKRP (Q9H9S5)
A8T (p.Ala8Thr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs1178928336
- ClinGen CA406494512
- ClinVar RCV001919234
- ClinVar RCV002425258
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.36
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available