N2S (p.Asn2Ser) variant of SH2B3 (SH2B adapter protein 3)
N2S (p.Asn2Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD 12-111418150-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.15
- ESM-1b 0.24
- AlphaMissense 0.37
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available