A34D (p.Ala34Asp) variant of SH2B3 (SH2B adapter protein 3)
A34D (p.Ala34Asp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- gnomAD rs1871231182
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.29
- CADD 24.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available