A21T (p.Ala21Thr) variant of SH2B3 (SH2B adapter protein 3)
A21T (p.Ala21Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD rs1299854240
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -0.98
- CADD 10.10
- PolyPhen-2 0.81
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available