A80V (p.Ala80Val) variant of MTOR (P42345)
A80V (p.Ala80Val) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MTOR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- rs2523469182
- ClinGen CA338404752
- ClinVar RCV003972034
- Uncertain significance
- MTOR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (MTOR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available