S27R (p.Ser27Arg) variant of MTOR (P42345)
S27R (p.Ser27Arg) in MTOR (P42345) 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 0.24 / 1. The record also includes population frequency data and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- ExAC rs763838860
- gnomAD rs763838860
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 21.80
- PolyPhen-2 0.18
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available