M1V (p.Met1Val) variant of XPC (Q01831)
M1V (p.Met1Val) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Xeroderma pigmentosum, group C; not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs763678756
- ClinGen CA2267848
- ClinVar RCV000666438
- ClinVar RCV001861752
- Conflicting interpretations
- Xeroderma pigmentosum, group C; not provided; Xeroderma pigmentosum
- 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: Conflicting classifications of pathogenicity (Xeroderma pigmentosum, group C; not provided; Xeroderma pigmento)
- 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)