N2D (p.Asn2Asp) variant of SH2B3 (SH2B adapter protein 3)
N2D (p.Asn2Asp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N2D (p.Asn2Asp) variant details
- p.Asn2Asp
- gnomAD 12-111418149-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.66
- CADD 23.60
- PolyPhen-2 0.45
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available