S16P (p.Ser16Pro) variant of SH2B3 (SH2B adapter protein 3)
S16P (p.Ser16Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- gnomAD 12-111418191-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0702
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.05
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available