C30G (p.Cys30Gly) variant of SH2B3 (SH2B adapter protein 3)
C30G (p.Cys30Gly) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C30G (p.Cys30Gly) variant details
- p.Cys30Gly
- gnomAD rs1421115167
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.93
- MetaLR 0.69
- MetaSVM 0.51
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available