T4S (p.Thr4Ser) variant of FKRP (Q9H9S5)
T4S (p.Thr4Ser) 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; Autosomal recessive limb-girdle mu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- rs771333733
- ClinGen CA9532092
- ClinVar RCV000382342
- ClinVar RCV000466132
- Uncertain significance
- Walker-Warburg congenital muscular dystrophy; Autosomal recessive limb-girdle mu
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.44
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (Walker-Warburg congenital muscular dystrophy; Autosomal recessiv)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)