V46M (p.Val46Met) variant of CDKN2A (Tumor suppressor ARF)
V46M (p.Val46Met) 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 Melanoma and neural system tumor syndrome; Melanoma-pancreatic cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs786203467
- ClinGen CA196724
- ClinVar RCV000166784
- ClinVar RCV001065923
- Uncertain significance
- Melanoma and neural system tumor syndrome; Melanoma-pancreatic cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.48
- MetaLR 0.44
- MetaSVM -0.52
- CADD 23.20
- SIFT 0.01
- EVE 0.58
- ClinVar: Uncertain significance (Melanoma and neural system tumor syndrome; Melanoma-pancreatic c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)