T10A (p.Thr10Ala) variant of MTOR (P42345)
T10A (p.Thr10Ala) 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 0.12 / 1. The record also includes population frequency data and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs368184120
- ClinGen CA591044
- ClinVar RCV003712432
- ESP rs368184120
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.06
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available