Y23H (p.Tyr23His) variant of DYSF (Dysferlin)
Y23H (p.Tyr23His) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- gnomAD 2-71454065-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available