N43D (p.Asn43Asp) variant of DYSF (Dysferlin)
N43D (p.Asn43Asp) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- gnomAD 2-71480921-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.48
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available