N11K (p.Asn11Lys) variant of DYSF (Dysferlin)
N11K (p.Asn11Lys) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- rs760168438
- ClinGen CA1705172
- ClinVar RCV003146987
- ExAC rs760168438
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 21.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available