P2329H (p.Pro2329His) variant of USH2A (Usherin)
P2329H (p.Pro2329His) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome; USH2A-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P2329H (p.Pro2329His) variant details
- p.Pro2329His
- rs554957414
- ClinGen CA1394975
- ClinVar RCV001977563
- ClinVar RCV005406246
- Pathogenic/Likely pathogenic
- Usher syndrome; USH2A-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.78
- AlphaMissense 0.18
- MetaLR 0.79
- MetaSVM 0.72
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; USH2A-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available