R34L (p.Arg34Leu) variant of DYSF (Dysferlin)
R34L (p.Arg34Leu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- gnomAD 2-71466931-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.21
- CADD 27.30
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available