R3T (p.Arg3Thr) variant of DYSF (Dysferlin)
R3T (p.Arg3Thr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R3T (p.Arg3Thr) variant details
- p.Arg3Thr
- gnomAD 2-71454006-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available