R21K (p.Arg21Lys) variant of CDKN2A (Tumor suppressor ARF)
R21K (p.Arg21Lys) 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 Melanoma-pancreatic cancer syndrome; Familial melanoma; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R21K (p.Arg21Lys) variant details
- p.Arg21Lys
- rs1057517601
- ClinGen CA16042111
- ClinVar RCV000409123
- ClinVar RCV000543250
- Uncertain significance
- Melanoma-pancreatic cancer syndrome; Familial melanoma; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 23.00
- ClinVar: Uncertain significance (Melanoma-pancreatic cancer syndrome; Familial melanoma; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- 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)