S18P (p.Ser18Pro) variant of SH2B3 (SH2B adapter protein 3)
S18P (p.Ser18Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 12-111418197-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 1.40
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available