V39M (p.Val39Met) variant of MYD88 (Q99836)
V39M (p.Val39Met) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs770387646
- ClinGen CA2316035
- cosmic curated COSV57175
- ClinVar RCV001961426
- Uncertain significance
- Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 22.90
- PolyPhen-2 0.76
- SIFT 0.08
- 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 5.8e-05)
- Structural context available
- Cited in: Oncogenically active MYD88 mutations in human lymphoma. (PMID 21179087)