Q64H (p.Gln64His) variant of CEP290 (Centrosomal protein of 290 kDa)
Q64H (p.Gln64His) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Meckel syndrome, type 4; Senior-Loken syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q64H (p.Gln64His) variant details
- p.Gln64His
- rs965922201
- ClinGen CA241167352
- ClinVar RCV002269696
- ClinVar RCV005002814
- Uncertain significance
- not provided; Meckel syndrome, type 4; Senior-Loken syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Meckel syndrome, type 4; Senior-Loken syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)