H68P (p.His68Pro) variant of USH2A (Usherin)
H68P (p.His68Pro) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H68P (p.His68Pro) variant details
- p.His68Pro
- ExAC rs765666540
- gnomAD rs765666540
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.06
- CADD 17.10
- PolyPhen-2 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available