S9F (p.Ser9Phe) variant of SH2B3 (SH2B adapter protein 3)
S9F (p.Ser9Phe) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- Ensembl rs2135546626
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- ESM-1b 0.62
- AlphaMissense 0.16
- MetaLR 0.10
- MetaSVM -0.99
- CADD 17.00
- Most common in the South Asian population (allele frequency 3.9e-05)
- Structural context available