P19P (p.Pro19Pro) variant of SH2B3 (SH2B adapter protein 3)
P19P (p.Pro19Pro) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P19P (p.Pro19Pro) variant details
- p.Pro19Pro
- rs770929984
- gnomAD 12-111418202-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0982
- CADD 2.48
- Most common in the Middle Eastern population (allele frequency 0.00023)
- Structural context available
- Literature evidence available