S13P (p.Ser13Pro) variant of SH2B3 (SH2B adapter protein 3)
S13P (p.Ser13Pro) 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 0.10 / 1. The record also includes population frequency data and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- Ensembl rs2135546707
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0991
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.02
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available