R114H (p.Arg114His) variant of CEP290 (Centrosomal protein of 290 kDa)
R114H (p.Arg114His) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Meckel-Gruber syndrome; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R114H (p.Arg114His) variant details
- p.Arg114His
- rs150296134
- ClinGen CA246817
- cosmic curated COSV58354
- ClinVar RCV000179538
- Conflicting interpretations
- Inborn genetic diseases; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.40
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Meckel-Gruber syndrome; Joubert syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)