A149V (p.Ala149Val) variant of CEP290 (Centrosomal protein of 290 kDa)
A149V (p.Ala149Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. 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.
A149V (p.Ala149Val) variant details
- p.Ala149Val
- ExAC rs779213141
- gnomAD rs779213141
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.25
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available