I71V (p.Ile71Val) variant of MTOR (P42345)
I71V (p.Ile71Val) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- ExAC rs764948947
- gnomAD rs764948947
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available