A8T (p.Ala8Thr) variant of MTOR (P42345)
A8T (p.Ala8Thr) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs748801456
- ClinGen CA591047
- ClinVar RCV001519061
- ExAC rs748801456
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.03
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.40
- ClinVar: Benign (not provided)
- EBI: Benign (in a lung large cell carcinoma sample)
- UniProt: Benign (in a lung large cell carcinoma sample)
- Most common in the East Asian population (allele frequency 7.8e-05)
- Structural context available