G263V (p.Gly263Val) variant of POLH (DNA polymerase eta)
G263V (p.Gly263Val) 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 Xeroderma pigmentosum variant type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G263V (p.Gly263Val) variant details
- p.Gly263Val
- rs1413703153
- UniProt VAR 021230
- gnomAD rs1413703153
- Likely pathogenic
- Xeroderma pigmentosum variant type
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum variant type)
- EBI: Pathogenic (in XPV)
- UniProt: Pathogenic (in XPV)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. (PMID 11773631)
- Cited in: The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. (PMID 10385124)