R34K (p.Arg34Lys) variant of DYSF (Dysferlin)
R34K (p.Arg34Lys) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R34K (p.Arg34Lys) variant details
- p.Arg34Lys
- gnomAD 2-71480895-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available