Y8H (p.Tyr8His) variant of DYSF (Dysferlin)
Y8H (p.Tyr8His) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y8H (p.Tyr8His) variant details
- p.Tyr8His
- gnomAD rs1227321624
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available