M19R (p.Met19Arg) variant of USH2A (Usherin)
M19R (p.Met19Arg) in USH2A (Usherin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M19R (p.Met19Arg) variant details
- p.Met19Arg
- gnomAD rs1415653978
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 17.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available