P15S (p.Pro15Ser) variant of SH2B3 (SH2B adapter protein 3)
P15S (p.Pro15Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- TOPMed rs1174249790
- gnomAD rs1174249790
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0849
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.02
- CADD 1.26
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available