N38S (p.Asn38Ser) variant of MYD88 (Q99836)
N38S (p.Asn38Ser) 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 0.62 / 1. The record also includes population frequency data and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs748676192
- ClinGen CA2316034
- ClinVar RCV000792435
- ExAC rs748676192
- Uncertain significance
- Pyogenic bacterial infections due to MyD88 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Pyogenic bacterial infections due to MyD88 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available