P126R (p.Pro126Arg) variant of CDKN2A (Tumor suppressor ARF)
P126R (p.Pro126Arg) 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 Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma and neural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P126R (p.Pro126Arg) variant details
- p.Pro126Arg
- rs876660436
- ClinGen CA10578837
- cosmic curated COSV58723
- ClinVar RCV000213802
- Pathogenic/Likely pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma and neural
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.18
- MetaLR 0.29
- MetaSVM -0.71
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Familial melanoma; Hereditary cancer-predisposing syndrome; Mela)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)