H26R (p.His26Arg) variant of CDKN2A (Tumor suppressor ARF)
H26R (p.His26Arg) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma and neural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
H26R (p.His26Arg) variant details
- p.His26Arg
- rs780803896
- ClinGen CA5012394
- ClinVar RCV001934651
- ClinVar RCV002406945
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma and neural
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 14.30
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; Mela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- 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)