S117A (p.Ser117Ala) variant of MTOR (P42345)
S117A (p.Ser117Ala) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S117A (p.Ser117Ala) variant details
- p.Ser117Ala
- TOPMed rs1650497118
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.42
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available