A38T (p.Ala38Thr) variant of SH2B3 (SH2B adapter protein 3)
A38T (p.Ala38Thr) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs2135547121
- ClinGen CA386717885
- ClinVar RCV002246834
- Ensembl rs2135547121
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.57
- MetaLR 0.43
- MetaSVM -0.03
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign (not specified)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available