A38V (p.Ala38Val) variant of MTOR (P42345)
A38V (p.Ala38Val) in MTOR (P42345) is a missense change. 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.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- TOPMed rs1341084454
- gnomAD rs1341084454
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available