T4T (p.Thr4Thr) variant of FKRP (Q9H9S5)
T4T (p.Thr4Thr) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T4T (p.Thr4Thr) variant details
- p.Thr4Thr
- gnomAD 19-46755462-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.75
- Population evidence available
- Structural context available
- Literature evidence available