S27G (p.Ser27Gly) variant of MTOR (P42345)
S27G (p.Ser27Gly) 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 0.21 / 1. The record also includes population frequency data and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- rs763838860
- ClinGen CA338405341
- ClinVar RCV001296150
- ExAC rs763838860
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available