R103L (p.Arg103Leu) variant of USH1C (Harmonin)
R103L (p.Arg103Leu) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R103L (p.Arg103Leu) variant details
- p.Arg103Leu
- rs397514500
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50014
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.55
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -0.99
- CADD 27.50
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available