V4G (p.Val4Gly) variant of DYSF (Dysferlin)
V4G (p.Val4Gly) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V4G (p.Val4Gly) variant details
- p.Val4Gly
- rs760262472
- ClinGen CA1705169
- ClinVar RCV002904598
- ClinVar RCV003146674
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 29.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)