P316T (p.Pro316Thr) variant of FKRP (Q9H9S5)
P316T (p.Pro316Thr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Walker-Warburg congenital muscular dystrophy; not provided; Autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P316T (p.Pro316Thr) variant details
- p.Pro316Thr
- rs28937901
- ClinGen CA116706
- ClinVar RCV000004445
- ClinVar RCV000675047
- Pathogenic/Likely pathogenic
- Walker-Warburg congenital muscular dystrophy; not provided; Autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.90
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Walker-Warburg congenital muscular dystrophy; not provided; Auto)
- EBI: Pathogenic (in MDDGC5)
- UniProt: Pathogenic (in MDDGC5)
- Population evidence available
- Structural context available
- Cited in: Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2… (PMID 11053680)
- Cited in: FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. (PMID 12654965)