R21H (p.Arg21His) variant of MEN1 (Menin)
R21H (p.Arg21His) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- cosmic curated COSV10965
- ExAC rs760629445
- gnomAD rs760629445
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.59
- CADD 25.80
- PolyPhen-2 0.73
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available