D42A (p.Asp42Ala) variant of POLE (Q07864)
D42A (p.Asp42Ala) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D42A (p.Asp42Ala) variant details
- p.Asp42Ala
- rs749886101
- ClinGen CA6894437
- ClinVar RCV003540638
- ExAC rs749886101
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.49
- CADD 26.70
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available