N43K (p.Asn43Lys) variant of DYSF (Dysferlin)
N43K (p.Asn43Lys) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- rs772240035
- ClinGen CA1705231
- ClinVar RCV000596018
- ClinVar RCV000814681
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.92
- MetaLR 0.60
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)