V91I (p.Val91Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
V91I (p.Val91Ile) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V91I (p.Val91Ile) variant details
- p.Val91Ile
- gnomAD rs1294292132
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available