A3S (p.Ala3Ser) variant of BTK (Tyrosine-protein kinase BTK)
A3S (p.Ala3Ser) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- NCI-TCGA Cosmic COSV5811
- NCI-TCGA Cosmic COSV5812
- cosmic curated COSV58121
- ESP rs368549990
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.14
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.93
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.205