A78T (p.Ala78Thr) variant of POLH (DNA polymerase eta)
A78T (p.Ala78Thr) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Xeroderma pigmentosum variant type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs372613817
- ClinGen CA3826910
- ClinVar RCV000304368
- ESP rs372613817
- Conflicting interpretations
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.24
- MetaSVM -0.56
- CADD 25.60
- ClinVar: Conflicting classifications of pathogenicity (Xeroderma pigmentosum variant type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0022)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)