T31M (p.Thr31Met) variant of CDKN2A (Tumor suppressor ARF)
T31M (p.Thr31Met) 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 Hereditary cancer-predisposing syndrome; Familial melanoma; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T31M (p.Thr31Met) variant details
- p.Thr31Met
- rs528789830
- ClinGen CA10578853
- ClinVar RCV000220549
- ClinVar RCV000507625
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial melanoma; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 22.50
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial melanoma; not)
- EBI: Benign
- UniProt: Benign
- 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)