L65P (p.Leu65Pro) variant of USH1C (Harmonin)
L65P (p.Leu65Pro) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome type 1C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L65P (p.Leu65Pro) variant details
- p.Leu65Pro
- rs1186965957
- ClinGen CA379798133
- ClinVar RCV002272826
- TOPMed rs1186965957
- Uncertain significance
- Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.52
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Usher syndrome type 1C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.412
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)