F144L (p.Phe144Leu) variant of MEN1 (Menin)
F144L (p.Phe144Leu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
F144L (p.Phe144Leu) variant details
- p.Phe144Leu
- rs2136177828
- ClinGen CA381186709
- ClinVar RCV003470097
- Ensembl rs2136177828
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.88
- CADD 28.00
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Likely benign (in MEN1)
- UniProt: Likely benign (in MEN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)