T17M (p.Thr17Met) variant of RHO (Rhodopsin)
T17M (p.Thr17Met) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- rs104893769
- ClinGen CA256665
- NCI-TCGA Cosmic COSV5621
- ClinVar RCV000013892
- Pathogenic
- Retinal dystrophy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.49
- AlphaMissense 0.62
- MetaLR 0.33
- MetaSVM -0.10
- CADD 24.60
- PolyPhen-2 0.80
- ClinVar: Pathogenic (Retinal dystrophy; not specified; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP). (PMID 1391967)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 1862076)