R14S (p.Arg14Ser) variant of MEN1 (Menin)
R14S (p.Arg14Ser) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- gnomAD rs1209178117
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.80
- CADD 29.30
- PolyPhen-2 0.54
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available