N43S (p.Asn43Ser) variant of DYSF (Dysferlin)
N43S (p.Asn43Ser) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- gnomAD 2-71480922-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.56
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available