S10A (p.Ser10Ala) variant of SH2B3 (SH2B adapter protein 3)
S10A (p.Ser10Ala) 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 0.09 / 1. The record also includes population frequency data and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- Ensembl rs886242710
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.05
- CADD 8.68
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available