D42E (p.Asp42Glu) variant of POLE (Q07864)
D42E (p.Asp42Glu) in POLE (Q07864) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- Ensembl rs2136034323
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.19
- CADD 16.20
- PolyPhen-2 0.20
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available