E48G (p.Glu48Gly) variant of ERCC3 (P19447)
E48G (p.Glu48Gly) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- rs769971648
- ClinGen CA1858612
- ClinVar RCV002032127
- ClinVar RCV002258358
- Uncertain significance
- not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)