I87V (p.Ile87Val) variant of MTOR (P42345)
I87V (p.Ile87Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- rs773018103
- ClinGen CA590988
- ClinVar RCV002003993
- ExAC rs773018103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available