A25S (p.Ala25Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
A25S (p.Ala25Ser) 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 Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- ExAC rs757196729
- gnomAD rs757196729
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.28
- CADD 26.20
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available