A42A (p.Ala42Ala) variant of FKRP (Q9H9S5)
A42A (p.Ala42Ala) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- gnomAD 19-46755576-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0903
- CADD 1.37
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available