Q7R (p.Gln7Arg) variant of SH2B3 (SH2B adapter protein 3)
Q7R (p.Gln7Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- ExAC rs753744013
- TOPMed rs753744013
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.02
- CADD 19.90
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available