S31P (p.Ser31Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
S31P (p.Ser31Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- ExAC rs765211180
- gnomAD rs765211180
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available