P31S (p.Pro31Ser) variant of POLG (DNA polymerase subunit gamma-1)
P31S (p.Pro31Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs1310226901
- ClinGen CA393774849
- ClinVar RCV002211313
- gnomAD rs1310226901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.14
- CADD 1.22
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available