P4T (p.Pro4Thr) variant of SH2B3 (SH2B adapter protein 3)
P4T (p.Pro4Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- ExAC rs767790633
- TOPMed rs767790633
- gnomAD rs767790633
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -1.07
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available