M1R (p.Met1Arg) variant of XPC (Q01831)
M1R (p.Met1Arg) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Xeroderma pigmentosum; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs760324503
- ClinGen CA2267847
- ClinVar RCV001377067
- ClinVar RCV004800999
- Pathogenic
- Xeroderma pigmentosum; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.16
- MetaSVM -0.80
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (Xeroderma pigmentosum; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)