A36P (p.Ala36Pro) variant of CDKN2A (Tumor suppressor ARF)
A36P (p.Ala36Pro) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A36P (p.Ala36Pro) variant details
- p.Ala36Pro
- rs1587358428
- ClinGen CA373086933
- ClinVar RCV000802091
- Ensembl rs1587358428
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.70
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.07
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)