S42R (p.Ser42Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
S42R (p.Ser42Arg) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S42R (p.Ser42Arg) variant details
- p.Ser42Arg
- gnomAD rs1200899018
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.11
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available