V35G (p.Val35Gly) variant of CEP290 (Centrosomal protein of 290 kDa)
V35G (p.Val35Gly) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as vus-high in the context of Joubert syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V35G (p.Val35Gly) variant details
- p.Val35Gly
- rs2501853647
- ClinGen CA385990018
- ClinVar RCV003334468
- ClinVar RCV004529628
- VUS-high
- Joubert syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.28
- CADD 33.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: VUS-high (Joubert syndrome 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)