V4A (p.Val4Ala) variant of CDKN1B (P46527)
V4A (p.Val4Ala) 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 0.54 / 1. The record also includes published literature and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1946485501
- ClinGen CA383967901
- ClinVar RCV001211462
- Ensembl rs1946485501
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.80
- MetaLR 0.57
- MetaSVM 0.09
- PolyPhen-2 0.82
- SIFT 0.10
- MutPred 0.33
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)