A12A (p.Ala12Ala) variant of FKRP (Q9H9S5)
A12A (p.Ala12Ala) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 19-46755486-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.18
- Population evidence available
- Structural context available
- Literature evidence available