A101T (p.Ala101Thr) variant of MTOR (P42345)
A101T (p.Ala101Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
A101T (p.Ala101Thr) variant details
- p.Ala101Thr
- rs774147239
- ClinGen CA590963
- ClinVar RCV001235450
- ExAC rs774147239
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available