S9C (p.Ser9Cys) variant of SH2B3 (SH2B adapter protein 3)
S9C (p.Ser9Cys) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- gnomAD 12-111418171-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.50
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available