P89L (p.Pro89Leu) variant of USH2A (Usherin)
P89L (p.Pro89Leu) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P89L (p.Pro89Leu) variant details
- p.Pro89Leu
- ExAC rs753270541
- gnomAD rs753270541
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available