R12Q (p.Arg12Gln) variant of CDKN2A (Tumor suppressor ARF)
R12Q (p.Arg12Gln) 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 and neural system tumor syndrome; Familial melanoma; Melanoma, cutaneou. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs201877069
- ClinGen CA190745938
- cosmic curated COSV64262
- ClinVar RCV000709077
- Uncertain significance
- Melanoma and neural system tumor syndrome; Familial melanoma; Melanoma, cutaneou
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 21.30
- ClinVar: Uncertain significance (Melanoma and neural system tumor syndrome; Familial melanoma; Me)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)