M54V (p.Met54Val) variant of MYD88 (Q99836)
M54V (p.Met54Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
M54V (p.Met54Val) variant details
- p.Met54Val
- rs750337749
- ClinGen CA2316044
- cosmic curated COSV57182
- ClinVar RCV002833445
- Uncertain significance
- Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.40
- MetaLR 0.53
- MetaSVM -0.08
- PolyPhen-2 0.09
- SIFT 0.04
- EVE 0.35
- ClinVar: Uncertain significance (Pyogenic bacterial infections due to MyD88 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available