I27L (p.Ile27Leu) variant of CDKN2A (Tumor suppressor ARF)
I27L (p.Ile27Leu) 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-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I27L (p.Ile27Leu) variant details
- p.Ile27Leu
- rs1057517575
- ClinGen CA16042110
- ClinVar RCV000412466
- ClinVar RCV000819361
- Uncertain significance
- Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibili
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- AlphaMissense 0.47
- MetaLR 0.19
- MetaSVM -0.96
- CADD 15.00
- SIFT 0.24
- EVE 0.31
- ClinVar: Uncertain significance (Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous maligna)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)