T3A (p.Thr3Ala) variant of POLH (DNA polymerase eta)
T3A (p.Thr3Ala) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs1368911954
- ClinGen CA364272267
- ClinVar RCV001162326
- TOPMed rs1368911954
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.02
- MetaSVM -0.98
- CADD 6.78
- 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 1.5e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)