A21P (p.Ala21Pro) variant of POLG (DNA polymerase subunit gamma-1)
A21P (p.Ala21Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD rs1398079290
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.69
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available