T15P (p.Thr15Pro) variant of FKRP (Q9H9S5)
T15P (p.Thr15Pro) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Walker-Warburg congenital muscular dystr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T15P (p.Thr15Pro) variant details
- p.Thr15Pro
- rs886042998
- ClinGen CA10604973
- ClinVar RCV000380326
- ClinVar RCV001366726
- Uncertain significance
- not provided; Cardiovascular phenotype; Walker-Warburg congenital muscular dystr
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.60
- CADD 19.30
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Walker-Warburg congenita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available