G30G (p.Gly30Gly) variant of DYSF (Dysferlin)
G30G (p.Gly30Gly) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G30G (p.Gly30Gly) variant details
- p.Gly30Gly
- rs2152680463
- gnomAD 2-71480884-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 12.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available