D315Y (p.Asp315Tyr) variant of MEN1 (Menin)
D315Y (p.Asp315Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D315Y (p.Asp315Tyr) variant details
- p.Asp315Tyr
- rs747851909
- ClinGen CA061863
- ClinVar RCV000494086
- ClinVar RCV001202722
- Conflicting interpretations
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.04
- CADD 28.70
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)