A25V (p.Ala25Val) variant of CEP290 (Centrosomal protein of 290 kDa)
A25V (p.Ala25Val) 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 Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs1356762631
- ClinGen CA385990213
- cosmic curated COSV57124
- ClinVar RCV003063071
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.49
- SIFT 0.29
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)