G45S (p.Gly45Ser) variant of POLH (DNA polymerase eta)
G45S (p.Gly45Ser) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum variant type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- cosmic curated COSV64780
- ExAC rs756148837
- TOPMed rs756148837
- gnomAD rs756148837
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.48
- MetaSVM -0.09
- CADD 27.80
- ClinVar: Uncertain significance (Xeroderma pigmentosum variant type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available