Y38C (p.Tyr38Cys) variant of BAK1 (Q16611)
Y38C (p.Tyr38Cys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- TOPMed rs1012494393
- gnomAD rs1012494393
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available