S68C (p.Ser68Cys) variant of BAK1 (Q16611)
S68C (p.Ser68Cys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S68C (p.Ser68Cys) variant details
- p.Ser68Cys
- gnomAD 6-33575797-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.95
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available