P15L (p.Pro15Leu) variant of SH2B3 (SH2B adapter protein 3)
P15L (p.Pro15Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- ExAC rs758110085
- TOPMed rs758110085
- gnomAD rs758110085
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.03
- CADD 15.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available