D16H (p.Asp16His) variant of DYSF (Dysferlin)
D16H (p.Asp16His) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- rs140603487
- ClinGen CA1705174
- ClinVar RCV002942311
- ClinVar RCV003146687
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 27.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)