P23L (p.Pro23Leu) variant of SH2B3 (SH2B adapter protein 3)
P23L (p.Pro23Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- ExAC rs760472328
- TOPMed rs760472328
- gnomAD rs760472328
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.08
- MetaSVM -0.98
- CADD 19.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available