R43W (p.Arg43Trp) variant of CDKN1B (P46527)
R43W (p.Arg43Trp) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs1946489200
- ClinGen CA383968799
- ClinVar RCV003619858
- gnomAD rs1946489200
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.57
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)