V6A (p.Val6Ala) variant of CDKN1B (P46527)
V6A (p.Val6Ala) 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 0.45 / 1. The record also includes published literature and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs1946485641
- ClinGen CA383967932
- ClinVar RCV001058043
- Ensembl rs1946485641
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.84
- MetaLR 0.43
- MetaSVM 0.05
- PolyPhen-2 0.68
- SIFT 0.01
- MutPred 0.21
- 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)