S21P (p.Ser21Pro) variant of TOP1 (DNA topoisomerase 1)
S21P (p.Ser21Pro) in TOP1 (DNA topoisomerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- gnomAD 20-41061396-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.11
- CADD 24.20
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available