Y23C (p.Tyr23Cys) variant of DYSF (Dysferlin)
Y23C (p.Tyr23Cys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs751600627
- ClinGen CA1705177
- ClinVar RCV003025292
- ExAC rs751600627
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 31.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)