L138S (p.Leu138Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
L138S (p.Leu138Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L138S (p.Leu138Ser) variant details
- p.Leu138Ser
- gnomAD rs1355121435
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available