R114P (p.Arg114Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
R114P (p.Arg114Pro) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R114P (p.Arg114Pro) variant details
- p.Arg114Pro
- 1000Genomes rs150296134
- ESP rs150296134
- ExAC rs150296134
- TOPMed rs150296134
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.48
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available