P19Q (p.Pro19Gln) variant of SH2B3 (SH2B adapter protein 3)
P19Q (p.Pro19Gln) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P19Q (p.Pro19Gln) variant details
- p.Pro19Gln
- 1000Genomes rs778291950
- ExAC rs778291950
- gnomAD rs778291950
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.06
- CADD 9.16
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available