N2K (p.Asn2Lys) variant of SH2B3 (SH2B adapter protein 3)
N2K (p.Asn2Lys) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- ExAC rs759758469
- TOPMed rs759758469
- gnomAD rs759758469
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.11
- ESM-1b 0.50
- AlphaMissense 0.78
- MetaLR 0.18
- MetaSVM -0.82
- CADD 6.79
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available