R29W (p.Arg29Trp) variant of CDKN2A (Tumor suppressor ARF)
R29W (p.Arg29Trp) 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; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- rs1316222103
- ClinGen CA373086973
- ClinVar RCV000556570
- ClinVar RCV002448676
- Uncertain significance
- Melanoma and neural system tumor syndrome; Familial melanoma; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.62
- CADD 27.20
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Melanoma and neural system tumor syndrome; Familial melanoma; He)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)