G9R (p.Gly9Arg) variant of CDKN1B (P46527)
G9R (p.Gly9Arg) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- rs755225286
- ClinGen CA6457363
- ClinVar RCV000460935
- ClinVar RCV000782207
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.58
- AlphaMissense 0.92
- MetaLR 0.75
- MetaSVM 0.61
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)