T15K (p.Thr15Lys) variant of MTOR (P42345)
T15K (p.Thr15Lys) 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 0.33 / 1. The record also includes population frequency data and structural context.
T15K (p.Thr15Lys) variant details
- p.Thr15Lys
- rs2100986504
- ClinGen CA2573130714
- ClinVar RCV001945127
- Ensembl rs2100986504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available