L150V (p.Leu150Val) variant of CEP290 (Centrosomal protein of 290 kDa)
L150V (p.Leu150Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L150V (p.Leu150Val) variant details
- p.Leu150Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.49
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available