V27M (p.Val27Met) variant of DYSF (Dysferlin)
V27M (p.Val27Met) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V27M (p.Val27Met) variant details
- p.Val27Met
- gnomAD rs1358539555
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 23.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available