D18G (p.Asp18Gly) variant of DYSF (Dysferlin)
D18G (p.Asp18Gly) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- rs750562195
- gnomAD 2-71466895-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available