M19I (p.Met19Ile) variant of USH2A (Usherin)
M19I (p.Met19Ile) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
M19I (p.Met19Ile) variant details
- p.Met19Ile
- cosmic curated COSV56366
- TOPMed rs1402621522
- gnomAD rs1402621522
- Missense
- Variant Prioritization Score for Impact Estimate 0.0496
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available