K4E (p.Lys4Glu) variant of XPC (Q01831)
K4E (p.Lys4Glu) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- rs2125053616
- ClinGen CA351543933
- ClinVar RCV002258649
- Ensembl rs2125053616
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.04
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)