L32F (p.Leu32Phe) variant of SH2B3 (SH2B adapter protein 3)
L32F (p.Leu32Phe) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- TOPMed rs1361522871
- gnomAD rs1361522871
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.18
- MetaSVM -0.85
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available