T31R (p.Thr31Arg) variant of CDKN2A (Tumor suppressor ARF)
T31R (p.Thr31Arg) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- rs528789830
- ClinGen CA5012391
- ClinVar RCV000255508
- ClinVar RCV000535017
- Conflicting interpretations
- Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 18.90
- ClinVar: Conflicting classifications of pathogenicity (Melanoma-pancreatic cancer syndrome; Hereditary cancer-predispos)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)