Y23Y (p.Tyr23Tyr) variant of FKRP (Q9H9S5)
Y23Y (p.Tyr23Tyr) 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.
Y23Y (p.Tyr23Tyr) variant details
- p.Tyr23Tyr
- rs954656663
- gnomAD 19-46755519-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.42
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available