V19M (p.Val19Met) variant of MTOR (P42345)
V19M (p.Val19Met) 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 0.28 / 1. The record also includes population frequency data and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- rs2100986456
- ClinGen CA338405404
- ClinVar RCV001912842
- Ensembl rs2100986456
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available