P89A (p.Pro89Ala) variant of USH2A (Usherin)
P89A (p.Pro89Ala) 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 0.54 / 1. The record also includes population frequency data and structural context.
P89A (p.Pro89Ala) variant details
- p.Pro89Ala
- ExAC rs758792895
- TOPMed rs758792895
- gnomAD rs758792895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available