V42G (p.Val42Gly) variant of DYSF (Dysferlin)
V42G (p.Val42Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
V42G (p.Val42Gly) variant details
- p.Val42Gly
- rs199772109
- ClinGen CA49750141
- ClinVar RCV003146933
- gnomAD rs199772109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.22
- MetaLR 0.32
- MetaSVM -0.53
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available