S36N (p.Ser36Asn) variant of POLG (DNA polymerase subunit gamma-1)
S36N (p.Ser36Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.30
- CADD 19.40
- PolyPhen-2 0.26
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available