L32S (p.Leu32Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
L32S (p.Leu32Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L32S (p.Leu32Ser) variant details
- p.Leu32Ser
- TOPMed rs1390112820
- gnomAD rs1390112820
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.36
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available