S86C (p.Ser86Cys) variant of BTK (Tyrosine-protein kinase BTK)
S86C (p.Ser86Cys) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S86C (p.Ser86Cys) variant details
- p.Ser86Cys
- TOPMed rs1927037919
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.23
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available