A35P (p.Ala35Pro) variant of CDKN2A (Tumor suppressor ARF)
A35P (p.Ala35Pro) 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 0.41 / 1. The record also includes published literature and structural context.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- rs1473253589
- ClinGen CA373086939
- ClinVar RCV001981497
- gnomAD rs1473253589
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.21
- MetaLR 0.26
- MetaSVM -0.78
- SIFT 0.02
- EVE 0.69
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)