D34N (p.Asp34Asn) variant of POLG (DNA polymerase subunit gamma-1)
D34N (p.Asp34Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- gnomAD rs1330678512
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available