D37E (p.Asp37Glu) variant of POLG (DNA polymerase subunit gamma-1)
D37E (p.Asp37Glu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D37E (p.Asp37Glu) variant details
- p.Asp37Glu
- gnomAD rs1380599126
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.29
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.48
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.6e-05)
- Structural context available