A36T (p.Ala36Thr) variant of SH2B3 (SH2B adapter protein 3)
A36T (p.Ala36Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- gnomAD 12-111418251-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.89
- CADD 21.80
- PolyPhen-2 0.55
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available