Q86R (p.Gln86Arg) variant of USH2A (Usherin)
Q86R (p.Gln86Arg) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q86R (p.Gln86Arg) variant details
- p.Gln86Arg
- cosmic curated COSV56374
- ExAC rs747033392
- gnomAD rs747033392
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.24
- AlphaMissense 0.15
- MetaLR 0.14
- MetaSVM -0.87
- CADD 24.40
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available