M44I (p.Met44Ile) variant of RHO (Rhodopsin)
M44I (p.Met44Ile) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M44I (p.Met44Ile) variant details
- p.Met44Ile
- TOPMed rs1289938976
- gnomAD rs1289938976
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.41
- CADD 24.00
- PolyPhen-2 0.91
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available