T4I (p.Thr4Ile) variant of FKRP (Q9H9S5)
T4I (p.Thr4Ile) 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 0.55 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- ExAC rs771333733
- TOPMed rs771333733
- gnomAD rs771333733
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.50
- CADD 21.60
- PolyPhen-2 0.14
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available