A11T (p.Ala11Thr) variant of MYD88 (Q99836)
A11T (p.Ala11Thr) in MYD88 (Q99836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyogenic bacterial infections due to MyD88 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs768025686
- ClinGen CA2316016
- cosmic curated COSV57181
- ClinVar RCV003072566
- Uncertain significance
- Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 9.58
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Pyogenic bacterial infections due to MyD88 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available