H46H (p.His46His) variant of ERCC5 (P28715)

Name: ERCC5 H46H (p.His46His) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

H46H (p.His46His) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.

H46H (p.His46His) variant details

p.His46His
rs1047768
gnomAD 13-102852167-T-C
Synonymous
Variant Prioritization Score for Impact Estimate 0.0835
CADD 0.40
Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 1)
Cited in: The Prognostic Value of the XPC rs2228001 Single Nucleotide Polymorphism in Cholangiocarcinoma. (PMID 40833230)
Cited in: Genetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients… (PMID 39735668)