A10D (p.Ala10Asp) variant of POLG (DNA polymerase subunit gamma-1)
A10D (p.Ala10Asp) 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 0.31 / 1. The record also includes population frequency data and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- 1000Genomes rs774459114
- ExAC rs774459114
- TOPMed rs774459114
- gnomAD rs774459114
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available