M63I (p.Met63Ile) variant of POLH (DNA polymerase eta)
M63I (p.Met63Ile) 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 0.77 / 1. The record also includes published literature and structural context.
M63I (p.Met63Ile) variant details
- p.Met63Ile
- rs946206811
- TOPMed rs946206811
- gnomAD rs946206811
- ClinGen CA364274724
- Uncertain significance
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.67
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum variant type)
- 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)