D21Y (p.Asp21Tyr) variant of DYSF (Dysferlin)
D21Y (p.Asp21Tyr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D21Y (p.Asp21Tyr) variant details
- p.Asp21Tyr
- cosmic curated COSV50592
- TOPMed rs1202468899
- gnomAD rs1202468899
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available