Q30Q (p.Gln30Gln) variant of FKRP (Q9H9S5)
Q30Q (p.Gln30Gln) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q30Q (p.Gln30Gln) variant details
- p.Gln30Gln
- gnomAD 19-46755540-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 8.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available