G25S (p.Gly25Ser) variant of SH2B3 (SH2B adapter protein 3)
G25S (p.Gly25Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- gnomAD rs1490131569
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- ESM-1b 0.17
- AlphaMissense 0.21
- MetaLR 0.17
- MetaSVM -0.94
- CADD 26.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available