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 0.65 / 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 0.647
- REVEL 0.84
- MetaLR 0.53
- MetaSVM 0.06
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available