P21L (p.Pro21Leu) variant of MYD88 (Q99836)
P21L (p.Pro21Leu) in MYD88 (Q99836) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- 1000Genomes rs563686976
- ExAC rs563686976
- TOPMed rs563686976
- gnomAD rs563686976
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 23.20
- PolyPhen-2 0.54
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available