Q38E (p.Gln38Glu) variant of POLH (DNA polymerase eta)
Q38E (p.Gln38Glu) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q38E (p.Gln38Glu) variant details
- p.Gln38Glu
- rs2127773194
- ClinGen CA364273016
- ClinVar RCV002258727
- Ensembl rs2127773194
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.54
- MetaSVM 0.07
- CADD 24.50
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)