M61T (p.Met61Thr) variant of TOP2A (DNA topoisomerase 2-alpha)
M61T (p.Met61Thr) in TOP2A (DNA topoisomerase 2-alpha) is a missense change. Clinical records from ClinVar, EBI, 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 0.54 / 1. The record also includes population frequency data and structural context.
M61T (p.Met61Thr) variant details
- p.Met61Thr
- rs187674496
- ClinGen CA8543840
- ClinVar RCV004186548
- 1000Genomes rs187674496
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- CADD 26.00
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available