D153V (p.Asp153Val) variant of MEN1 (Menin)
D153V (p.Asp153Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D153V (p.Asp153Val) variant details
- p.Asp153Val
- rs1565648789
- ClinGen CA381186284
- cosmic curated COSV10963
- ClinVar RCV000703817
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. (PMID 12699448)
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)