K40R (p.Lys40Arg) variant of TOP1 (DNA topoisomerase 1)
K40R (p.Lys40Arg) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- TOPMed rs1457507702
- gnomAD rs1457507702
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.16
- MetaLR 0.08
- MetaSVM -1.03
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available