S28N (p.Ser28Asn) variant of POLG (DNA polymerase subunit gamma-1)
S28N (p.Ser28Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD rs1198588992
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.22
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.05
- Population evidence available
- Structural context available