A53T (p.Ala53Thr) variant of BAK1 (Q16611)
A53T (p.Ala53Thr) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- TOPMed rs1280525161
- gnomAD rs1280525161
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.10
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available