A3T (p.Ala3Thr) variant of BTK (Tyrosine-protein kinase BTK)
A3T (p.Ala3Thr) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; X-linked agammaglobulinemia with growth hormone deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs368549990
- ClinGen CA10473242
- NCI-TCGA Cosmic COSV5811
- cosmic curated COSV58117
- Uncertain significance
- not provided; X-linked agammaglobulinemia with growth hormone deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.14
- CADD 2.73
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not provided; X-linked agammaglobulinemia with growth hormone de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.205