E74K (p.Glu74Lys) variant of USH2A (Usherin)
E74K (p.Glu74Lys) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- cosmic curated COSV10453
- TOPMed rs1342018128
- gnomAD rs1342018128
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.04
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available