T4P (p.Thr4Pro) variant of FKRP (Q9H9S5)
T4P (p.Thr4Pro) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T4P (p.Thr4Pro) variant details
- p.Thr4Pro
- ExAC rs778085300
- TOPMed rs778085300
- gnomAD rs778085300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.45
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00094)
- Structural context available