E31K (p.Glu31Lys) variant of XPC (Q01831)
E31K (p.Glu31Lys) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs368820141
- ClinGen CA2267824
- ClinVar RCV002258661
- ESP rs368820141
- Uncertain significance
- Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.08
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Xeroderma pigmentosum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)