P17Q (p.Pro17Gln) variant of CDKN2A (Tumor suppressor ARF)
P17Q (p.Pro17Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- rs1820534329
- ClinGen CA373087042
- ClinVar RCV001214847
- Ensembl rs1820534329
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.30
- MetaLR 0.60
- MetaSVM -0.16
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance (in dbSNP:rs3731190)
- UniProt: Uncertain significance (in dbSNP:rs3731190)
- 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)