I146M (p.Ile146Met) variant of WWTR1 (Q9GZV5)
I146M (p.Ile146Met) in WWTR1 (Q9GZV5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I146M (p.Ile146Met) variant details
- p.Ile146Met
- rs764139095
- ClinGen CA2662370
- ClinVar RCV004164271
- ExAC rs764139095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.51
- CADD 24.80
- PolyPhen-2 0.88
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available