T58M (p.Thr58Met) variant of RHO (Rhodopsin)
T58M (p.Thr58Met) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly 17, primary, autosomal recessive; Occult macular dystrophy; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T58M (p.Thr58Met) variant details
- p.Thr58Met
- rs28933394
- ClinGen CA2607073
- ClinVar RCV001242415
- ClinVar RCV001265174
- Uncertain significance
- Microcephaly 17, primary, autosomal recessive; Occult macular dystrophy; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Microcephaly 17, primary, autosomal recessive; Occult macular dy)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the REMAINING population (allele frequency 0.00025)
- Structural context available