P8H (p.Pro8His) variant of SH2B3 (SH2B adapter protein 3)
P8H (p.Pro8His) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD 12-111418168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- MetaLR 0.17
- MetaSVM -0.85
- CADD 22.60
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available