A12T (p.Ala12Thr) variant of POLG (DNA polymerase subunit gamma-1)
A12T (p.Ala12Thr) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- cosmic curated COSV51522
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.11
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available