P11L (p.Pro11Leu) variant of SH2B3 (SH2B adapter protein 3)
P11L (p.Pro11Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- gnomAD rs1201207431
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available