T191P (p.Thr191Pro) variant of POLH (DNA polymerase eta)
T191P (p.Thr191Pro) in POLH (DNA polymerase eta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Xeroderma pigmentosum variant type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T191P (p.Thr191Pro) variant details
- p.Thr191Pro
- rs760104150
- ClinGen CA364280655
- ClinVar RCV003479531
- ClinVar RCV003779188
- Likely pathogenic
- not provided; Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.17
- MetaSVM -0.76
- CADD 25.90
- ClinVar: Likely pathogenic (not provided; Xeroderma pigmentosum variant type)
- EBI: Pathogenic (in XPV)
- UniProt: Pathogenic (in XPV)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant. (PMID 38212351)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)