A41T (p.Ala41Thr) variant of MTOR (P42345)
A41T (p.Ala41Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- rs758668050
- ClinGen CA338405233
- ClinVar RCV001230840
- ExAC rs758668050
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.36
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available