P56H (p.Pro56His) variant of POLG (DNA polymerase subunit gamma-1)
P56H (p.Pro56His) in POLG (DNA polymerase subunit gamma-1) 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 0.17 / 1. The record also includes population frequency data and structural context.
P56H (p.Pro56His) variant details
- p.Pro56His
- cosmic curated COSV51522
- Ensembl rs1022612492
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.14
- CADD 15.00
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available