A292E (p.Ala292Glu) variant of RHO (Rhodopsin)
A292E (p.Ala292Glu) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital stationary night blindness autosomal dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
A292E (p.Ala292Glu) variant details
- p.Ala292Glu
- rs104893789
- ClinGen CA122822
- NCI-TCGA Cosmic COSV1044
- NCI-TCGA Cosmic COSV9996
- Pathogenic
- Congenital stationary night blindness autosomal dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.89
- MetaLR 0.14
- MetaSVM -0.72
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.48
- ClinVar: Pathogenic (Congenital stationary night blindness autosomal dominant 1)
- EBI: Pathogenic (in CSNBAD1)
- UniProt: Pathogenic (in CSNBAD1)
- Structural context available
- Cited in: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. (PMID 8358437)
- Cited in: Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. (PMID 7846071)