E98D (p.Glu98Asp) variant of ERCC2 (P18074)
E98D (p.Glu98Asp) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- rs145947678
- ClinGen CA158806
- ClinVar RCV000120785
- ClinVar RCV000898560
- Benign/Likely benign
- not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.17
- CADD 8.96
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Benign/Likely benign (not provided; Xeroderma pigmentosum)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)