A69S (p.Ala69Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
A69S (p.Ala69Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- TOPMed rs2040522634
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.74
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available