A8V (p.Ala8Val) variant of MTOR (P42345)
A8V (p.Ala8Val) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD rs1191287195
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.02
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.20
- MutPred 0.46
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available