P67L (p.Pro67Leu) variant of USH1C (Harmonin)
P67L (p.Pro67Leu) 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 0.40 / 1. The record also includes published literature and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs1850975781
- ClinGen CA379798078
- cosmic curated COSV50036
- ClinVar RCV001106429
- Uncertain significance
- Usher syndrome type 1C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.82
- MetaLR 0.18
- MetaSVM -0.83
- PolyPhen-2 1.00
- SIFT 0.18
- MutPred 0.61
- ClinVar: Uncertain significance (Usher syndrome type 1C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)