T94I (p.Thr94Ile) variant of RHO (Rhodopsin)
T94I (p.Thr94Ile) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital stationary night blindness autosomal dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- rs104893796
- ClinGen CA122825
- ClinVar RCV000013929
- UniProt VAR 004784
- Likely pathogenic
- Congenital stationary night blindness autosomal dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.94
- MetaLR 0.20
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Congenital stationary night blindness autosomal dominant 1)
- EBI: Pathogenic (in CSNBAD1)
- UniProt: Pathogenic (in CSNBAD1)
- Structural context available
- Cited in: A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night… (PMID 9888392)
- Cited in: Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. (PMID 7846071)