P18Q (p.Pro18Gln) variant of CDKN2A (Tumor suppressor ARF)
P18Q (p.Pro18Gln) 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. 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.
P18Q (p.Pro18Gln) variant details
- p.Pro18Gln
- rs1587358603
- ClinGen CA373087036
- ClinVar RCV000822783
- ClinVar RCV002345907
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.27
- MetaLR 0.29
- MetaSVM -0.75
- CADD 12.20
- SIFT 0.17
- EVE 0.25
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- 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)