P17S (p.Pro17Ser) variant of CDKN2A (Tumor suppressor ARF)
P17S (p.Pro17Ser) 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 Hereditary cancer-predisposing syndrome; Familial melanoma; Melanoma and neural. 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.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs3731190
- ClinGen CA5012398
- ClinVar RCV000811616
- ClinVar RCV003166306
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma; Melanoma and neural
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 22.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma; Mela)
- EBI: Variant of uncertain significance (in dbSNP:rs3731190)
- UniProt: Uncertain significance (in dbSNP:rs3731190)
- Most common in the South Asian population (allele frequency 0.00013)
- 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)