V345A (p.Val345Ala) variant of RHO (Rhodopsin)
V345A (p.Val345Ala) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal disorder; not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V345A (p.Val345Ala) variant details
- p.Val345Ala
- rs1578281706
- ClinGen CA354471270
- ClinVar RCV000987333
- ClinVar RCV001378537
- Pathogenic/Likely pathogenic
- Retinal disorder; not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.26
- AlphaMissense 0.38
- MetaLR 0.51
- MetaSVM 0.17
- CADD 27.20
- PolyPhen-2 0.97
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)