S86A (p.Ser86Ala) variant of BTK (Tyrosine-protein kinase BTK)
S86A (p.Ser86Ala) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S86A (p.Ser86Ala) variant details
- p.Ser86Ala
- gnomAD rs1927038069
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.18
- CADD 13.00
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available