C14Y (p.Cys14Tyr) variant of BAK1 (Q16611)
C14Y (p.Cys14Tyr) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- ExAC rs754274553
- TOPMed rs754274553
- gnomAD rs754274553
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 21.60
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available