F22F (p.Phe22Phe) variant of FKRP (Q9H9S5)
F22F (p.Phe22Phe) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F22F (p.Phe22Phe) variant details
- p.Phe22Phe
- rs995818740
- gnomAD 19-46755516-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available