G45D (p.Gly45Asp) variant of POLH (DNA polymerase eta)
G45D (p.Gly45Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs2127773221
- ClinGen CA364273118
- ClinVar RCV002259287
- Ensembl rs2127773221
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.65
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)