L26F (p.Leu26Phe) variant of USH1C (Harmonin)
L26F (p.Leu26Phe) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- rs267602805
- ClinGen CA218466943
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50014
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.24
- CADD 23.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)