T61A (p.Thr61Ala) variant of MTOR (P42345)
T61A (p.Thr61Ala) 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 0.38 / 1. The record also includes population frequency data and structural context.
T61A (p.Thr61Ala) variant details
- p.Thr61Ala
- rs756658424
- ClinGen CA590999
- ClinVar RCV001366880
- ExAC rs756658424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available