F29L (p.Phe29Leu) variant of SH2B3 (SH2B adapter protein 3)
F29L (p.Phe29Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F29L (p.Phe29Leu) variant details
- p.Phe29Leu
- gnomAD rs1361601702
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.53
- MetaSVM 0.06
- CADD 24.80
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available