C30R (p.Cys30Arg) variant of SH2B3 (SH2B adapter protein 3)
C30R (p.Cys30Arg) 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, published literature, and structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- gnomAD 12-111418233-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.92
- MetaLR 0.69
- MetaSVM 0.51
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available