V87D (p.Val87Asp) variant of RHO (Rhodopsin)
V87D (p.Val87Asp) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
V87D (p.Val87Asp) variant details
- p.Val87Asp
- rs104893771
- ClinGen CA256667
- ClinVar RCV000013894
- ClinVar RCV001198366
- Likely pathogenic
- Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.96
- MetaLR 0.24
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (Pigmentary retinal dystrophy)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 1862076)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)