R20H (p.Arg20His) variant of CEP290 (Centrosomal protein of 290 kDa)
R20H (p.Arg20His) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- cosmic curated COSV99898
- TOPMed rs2040640720
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available