M44L (p.Met44Leu) variant of RHO (Rhodopsin)
M44L (p.Met44Leu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
M44L (p.Met44Leu) variant details
- p.Met44Leu
- rs1287941897
- ClinGen CA354495864
- ClinVar RCV002756596
- gnomAD rs1287941897
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in RP4)
- UniProt: Uncertain significance (in RP4)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available