S69N (p.Ser69Asn) variant of BAK1 (Q16611)
S69N (p.Ser69Asn) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- ExAC rs755786933
- TOPMed rs755786933
- gnomAD rs755786933
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.07
- CADD 42.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available