P22L (p.Pro22Leu) variant of POLG (DNA polymerase subunit gamma-1)
P22L (p.Pro22Leu) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- cosmic curated COSV51524
- TOPMed rs1162380960
- gnomAD rs1162380960
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.16
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available