S10L (p.Ser10Leu) variant of SH2B3 (SH2B adapter protein 3)
S10L (p.Ser10Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- TOPMed rs1484288251
- gnomAD rs1484288251
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.97
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available