A38S (p.Ala38Ser) variant of MTOR (P42345)
A38S (p.Ala38Ser) in MTOR (P42345) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- ESP rs138117203
- ExAC rs138117203
- TOPMed rs138117203
- gnomAD rs138117203
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.10
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.43
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available