P19L (p.Pro19Leu) variant of SH2B3 (SH2B adapter protein 3)
P19L (p.Pro19Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- 1000Genomes rs778291950
- ExAC rs778291950
- gnomAD rs778291950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.08
- MetaSVM -1.01
- CADD 10.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available