D18N (p.Asp18Asn) variant of DYSF (Dysferlin)
D18N (p.Asp18Asn) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- gnomAD 2-71466894-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.13
- CADD 25.10
- PolyPhen-2 0.71
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available