Q819L (p.Gln819Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
Q819L (p.Gln819Leu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Meckel syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q819L (p.Gln819Leu) variant details
- p.Gln819Leu
- rs1209421607
- ClinGen CA385972643
- ClinVar RCV001000094
- UniProt VAR 087300
- Likely pathogenic
- Meckel syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.19
- CADD 27.40
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Likely pathogenic (Meckel syndrome, type 4)
- EBI: Likely pathogenic (in MKS4)
- UniProt: Likely pathogenic (in MKS4)
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Cited in: Meckel syndrome: Clinical and mutation profile in six fetuses. (PMID 31411728)
- Cited in: Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (PMID 17564974)