V12I (p.Val12Ile) variant of DYSF (Dysferlin)
V12I (p.Val12Ile) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- cosmic curated COSV50274
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 19.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available