P23Q (p.Pro23Gln) variant of SH2B3 (SH2B adapter protein 3)
P23Q (p.Pro23Gln) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- gnomAD 12-111418213-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -0.77
- CADD 19.10
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available