P18L (p.Pro18Leu) variant of CDKN2A (Tumor suppressor ARF)
P18L (p.Pro18Leu) 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 not provided; Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1587358603
- ClinGen CA373087034
- cosmic curated COSV64267
- ClinVar RCV001299762
- Uncertain significance
- not provided; Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.22
- MetaLR 0.29
- MetaSVM -0.78
- CADD 12.80
- SIFT 0.18
- EVE 0.28
- ClinVar: Uncertain significance (not provided; Familial melanoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)