I141V (p.Ile141Val) variant of TOP2A (DNA topoisomerase 2-alpha)
I141V (p.Ile141Val) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
I141V (p.Ile141Val) variant details
- p.Ile141Val
- Ensembl rs2035350782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.17
- CADD 24.70
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available