M44T (p.Met44Thr) variant of RHO (Rhodopsin)
M44T (p.Met44Thr) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
M44T (p.Met44Thr) variant details
- p.Met44Thr
- rs774336493
- ClinGen CA2607067
- ClinVar RCV002026974
- UniProt VAR 004772
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.74
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. (PMID 8076945)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)