S16L (p.Ser16Leu) variant of SH2B3 (SH2B adapter protein 3)
S16L (p.Ser16Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- ExAC rs779622961
- gnomAD rs779622961
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.3e-05)
- Structural context available