V19M (p.Val19Met) variant of RHO (Rhodopsin)
V19M (p.Val19Met) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- TOPMed rs1372284722
- gnomAD rs1372284722
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.52
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available