V45A (p.Val45Ala) variant of DYSF (Dysferlin)
V45A (p.Val45Ala) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- gnomAD 2-71480928-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.39
- CADD 23.30
- PolyPhen-2 0.39
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available