P16T (p.Pro16Thr) variant of POLG (DNA polymerase subunit gamma-1)
P16T (p.Pro16Thr) 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.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- Ensembl rs1223347965
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available