D15V (p.Asp15Val) variant of TOP1 (DNA topoisomerase 1)
D15V (p.Asp15Val) 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.
D15V (p.Asp15Val) variant details
- p.Asp15Val
- Ensembl rs2122578352
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -1.02
- CADD 25.80
- PolyPhen-2 0.40
- SIFT 0.13
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available