A41V (p.Ala41Val) variant of CDKN2A (Tumor suppressor ARF)
A41V (p.Ala41Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs2131148341
- ClinGen CA373086901
- cosmic curated COSV10527
- ClinVar RCV003387333
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.18
- MetaLR 0.46
- MetaSVM -0.38
- SIFT 0.01
- EVE 0.56
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)