E48D (p.Glu48Asp) variant of ERCC3 (P19447)
E48D (p.Glu48Asp) 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 group B; Trichothiodystrophy 2, photosensiti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- rs149309991
- ClinGen CA1858611
- cosmic curated COSV99035
- ClinVar RCV001133122
- Uncertain significance
- not provided; Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensiti
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum group B; Trichothiodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)