T62I (p.Thr62Ile) variant of BAK1 (Q16611)
T62I (p.Thr62Ile) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- gnomAD 6-33575814-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -1.02
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available