A37V (p.Ala37Val) variant of SH2B3 (SH2B adapter protein 3)
A37V (p.Ala37Val) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs1242525317
- TOPMed rs1242525317
- gnomAD rs1242525317
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.13
- MetaSVM -0.79
- CADD 21.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available