C14F (p.Cys14Phe) variant of BAK1 (Q16611)
C14F (p.Cys14Phe) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- ExAC rs754274553
- TOPMed rs754274553
- gnomAD rs754274553
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.11
- CADD 18.10
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available