C30W (p.Cys30Trp) variant of SH2B3 (SH2B adapter protein 3)
C30W (p.Cys30Trp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C30W (p.Cys30Trp) variant details
- p.Cys30Trp
- gnomAD 12-111418235-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.73
- MetaLR 0.65
- MetaSVM 0.23
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available