V4A (p.Val4Ala) variant of DYSF (Dysferlin)
V4A (p.Val4Ala) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- gnomAD 2-71466862-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.20
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available