P17L (p.Pro17Leu) variant of CDKN2A (Tumor suppressor ARF)
P17L (p.Pro17Leu) 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 Familial melanoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1820534329
- ClinGen CA373087040
- cosmic curated COSV10652
- ClinVar RCV001210153
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.30
- MetaLR 0.60
- MetaSVM -0.16
- CADD 24.90
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance (in dbSNP:rs3731190)
- UniProt: Uncertain significance (in dbSNP:rs3731190)
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)