P5L (p.Pro5Leu) variant of TOP2A (DNA topoisomerase 2-alpha)
P5L (p.Pro5Leu) in TOP2A (DNA topoisomerase 2-alpha) 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 0.40 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- NCI-TCGA Cosmic COSV7073
- gnomAD rs2035411566
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.14
- CADD 26.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available