P4H (p.Pro4His) variant of SH2B3 (SH2B adapter protein 3)
P4H (p.Pro4His) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- gnomAD 12-111418156-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.09
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available