N11D (p.Asn11Asp) variant of DYSF (Dysferlin)
N11D (p.Asn11Asp) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N11D (p.Asn11Asp) variant details
- p.Asn11Asp
- rs767584167
- gnomAD 2-71466873-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.32
- CADD 24.40
- PolyPhen-2 0.76
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available