I14I (p.Ile14Ile) variant of FKRP (Q9H9S5)
I14I (p.Ile14Ile) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I14I (p.Ile14Ile) variant details
- p.Ile14Ile
- gnomAD 19-46755492-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 8.48
- Population evidence available
- Structural context available
- Literature evidence available