R19L (p.Arg19Leu) variant of CDKN2A (Tumor suppressor ARF)
R19L (p.Arg19Leu) 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; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs748616717
- ClinGen CA5012397
- ClinVar RCV000479028
- ClinVar RCV001320487
- Uncertain significance
- Familial melanoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.38
- MetaLR 0.42
- MetaSVM -0.59
- CADD 19.30
- SIFT 0.02
- EVE 0.64
- ClinVar: Uncertain significance (Familial melanoma; not provided; Hereditary cancer-predisposing)
- 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)