V4M (p.Val4Met) variant of DYSF (Dysferlin)
V4M (p.Val4Met) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs2152643180
- gnomAD 2-71466861-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available