A14P (p.Ala14Pro) variant of CDKN2A (Tumor suppressor ARF)
A14P (p.Ala14Pro) 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 0.37 / 1. The record also includes published literature and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs1241364288
- ClinGen CA373087062
- ClinVar RCV001316894
- ClinVar RCV004609756
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.11
- MetaLR 0.24
- MetaSVM -0.93
- SIFT 0.29
- EVE 0.20
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)