C6C (p.Cys6Cys) variant of FKRP (Q9H9S5)
C6C (p.Cys6Cys) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C6C (p.Cys6Cys) variant details
- p.Cys6Cys
- rs373388363
- gnomAD 19-46755468-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 12.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available