S51T (p.Ser51Thr) variant of BTK (Tyrosine-protein kinase BTK)
S51T (p.Ser51Thr) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S51T (p.Ser51Thr) variant details
- p.Ser51Thr
- gnomAD rs1555980800
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.26
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0395