T31A (p.Thr31Ala) variant of CDKN2A (Tumor suppressor ARF)
T31A (p.Thr31Ala) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs2131148604
- ClinGen CA373086963
- cosmic curated COSV10943
- ClinVar RCV004522568
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.05
- MetaLR 0.11
- MetaSVM -1.03
- SIFT 0.91
- EVE 0.05
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)