V35I (p.Val35Ile) variant of SH2B3 (SH2B adapter protein 3)
V35I (p.Val35Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- ExAC rs758024019
- TOPMed rs758024019
- gnomAD rs758024019
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.03
- CADD 7.73
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.6e-05)
- Structural context available