F36L (p.Phe36Leu) variant of MYD88 (Q99836)
F36L (p.Phe36Leu) in MYD88 (Q99836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Pyogenic bacterial infections due to MyD88 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F36L (p.Phe36Leu) variant details
- p.Phe36Leu
- rs372072898
- ClinGen CA2316033
- ClinVar RCV000646118
- ClinVar RCV004025696
- Uncertain significance
- Inborn genetic diseases; Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 25.40
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Pyogenic bacterial infections due to My)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)