M1V (p.Met1Val) variant of CDKN2A (Tumor suppressor ARF)
M1V (p.Met1Val) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melanoma-pancreatic cancer syndrome; Familial melanoma; Hereditary cancer-predis. The record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1820538394
- ClinGen CA373087139
- ClinVar RCV001050470
- ClinVar RCV004609592
- Conflicting interpretations
- Melanoma-pancreatic cancer syndrome; Familial melanoma; Hereditary cancer-predis
- Missense
- MetaLR 0.32
- MetaSVM -0.59
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Melanoma-pancreatic cancer syndrome; Familial melanoma; Heredita)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)