L114V (p.Leu114Val) variant of MTOR (P42345)
L114V (p.Leu114Val) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L114V (p.Leu114Val) variant details
- p.Leu114Val
- rs1167561582
- ClinGen CA338404144
- ClinVar RCV003012222
- gnomAD rs1167561582
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.47
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available