Q7E (p.Gln7Glu) variant of SH2B3 (SH2B adapter protein 3)
Q7E (p.Gln7Glu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- gnomAD 12-111418164-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.04
- CADD 15.20
- PolyPhen-2 0.28
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available