P2L (p.Pro2Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
P2L (p.Pro2Leu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- TOPMed rs2040643955
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.29
- CADD 24.60
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available