L42F (p.Leu42Phe) variant of USH1C (Harmonin)
L42F (p.Leu42Phe) 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 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- rs545856155
- ClinGen CA5905158
- ClinVar RCV002756618
- 1000Genomes rs545856155
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.71
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.185