I37V (p.Ile37Val) variant of TBK1 (Q9UHD2)
I37V (p.Ile37Val) in TBK1 (Q9UHD2) 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 0.18 / 1. The record also includes population frequency data and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs780879936
- ClinGen CA6668721
- ClinVar RCV001755487
- ExAC rs780879936
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available