T15A (p.Thr15Ala) variant of MTOR (P42345)
T15A (p.Thr15Ala) 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 0.20 / 1. The record also includes population frequency data and structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- rs2523475823
- ClinGen CA338405445
- ClinVar RCV002806343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available