L2V (p.Leu2Val) variant of MTOR (P42345)
L2V (p.Leu2Val) in MTOR (P42345) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD rs1471222130
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available