P2S (p.Pro2Ser) variant of CEP290 (Centrosomal protein of 290 kDa)
P2S (p.Pro2Ser) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs1064795491
- ClinGen CA16619603
- ClinVar RCV000478865
- ClinVar RCV001373838
- Uncertain significance
- Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)