V35A (p.Val35Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
V35A (p.Val35Ala) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- rs2501853647
- ClinGen CA385990020
- ClinVar RCV003887497
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.24
- CADD 25.60
- PolyPhen-2 0.72
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available