A44A (p.Ala44Ala) variant of FKRP (Q9H9S5)
A44A (p.Ala44Ala) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- gnomAD 19-46755582-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.29
- Population evidence available
- Structural context available
- Literature evidence available