Q70H (p.Gln70His) variant of CDKN2A (Tumor suppressor ARF)
Q70H (p.Gln70His) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant. The record also includes structural context.
Q70H (p.Gln70His) variant details
- p.Gln70His
- Ensembl rs104894109
- Pathogenic/Likely pathogenic
- not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cut)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available