S2N (p.Ser2Asn) variant of POLG (DNA polymerase subunit gamma-1)
S2N (p.Ser2Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- gnomAD rs1358669217
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.27
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available