V35G (p.Val35Gly) variant of SH2B3 (SH2B adapter protein 3)
V35G (p.Val35Gly) in SH2B3 (SH2B adapter protein 3) 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 0.30 / 1. The record also includes population frequency data and structural context.
V35G (p.Val35Gly) variant details
- p.Val35Gly
- Ensembl rs1871231900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.06
- MetaSVM -1.03
- CADD 15.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available