M1L (p.Met1Leu) variant of XPC (Q01831)
M1L (p.Met1Leu) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs763678756
- ClinGen CA351543954
- ClinVar RCV000671101
- ClinVar RCV003669168
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)