T4A (p.Thr4Ala) variant of FKRP (Q9H9S5)
T4A (p.Thr4Ala) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- rs778085300
- ClinGen CA9532091
- ClinVar RCV003224679
- ClinVar RCV003341554
- Uncertain significance
- Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle m
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.44
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)