L7F (p.Leu7Phe) variant of DYSF (Dysferlin)
L7F (p.Leu7Phe) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs1373048381
- ClinGen CA347205944
- NCI-TCGA Cosmic COSV5057
- cosmic curated COSV50572
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 23.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)