E95G (p.Glu95Gly) variant of ERCC2 (P18074)
E95G (p.Glu95Gly) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome 2; Trichothio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E95G (p.Glu95Gly) variant details
- p.Glu95Gly
- rs571718677
- ClinGen CA158803
- cosmic curated COSV10583
- ClinVar RCV000120784
- Benign/Likely benign
- Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome 2; Trichothio
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Benign/Likely benign (Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.025)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)