G56E (p.Gly56Glu) variant of CDKN2A (Tumor suppressor ARF)
G56E (p.Gly56Glu) 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 Hereditary cancer-predisposing syndrome; Melanoma and neural system tumor syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- rs748327367
- ClinGen CA5012379
- ClinVar RCV000542585
- ClinVar RCV000566041
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma and neural system tumor syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.25
- MetaLR 0.19
- MetaSVM -0.91
- CADD 23.70
- SIFT 0.34
- EVE 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma and neural sys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)