A41S (p.Ala41Ser) variant of MTOR (P42345)
A41S (p.Ala41Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
A41S (p.Ala41Ser) variant details
- p.Ala41Ser
- rs758668050
- NCI-TCGA Cosmic COSV6387
- ExAC rs758668050
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available