A36E (p.Ala36Glu) variant of SH2B3 (SH2B adapter protein 3)
A36E (p.Ala36Glu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A36E (p.Ala36Glu) variant details
- p.Ala36Glu
- 1000Genomes rs574829930
- ExAC rs574829930
- TOPMed rs574829930
- gnomAD rs574829930
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.29
- MetaSVM -0.45
- CADD 23.00
- Most common in the HGDP:KALASH population (allele frequency 0.048)
- Structural context available