T15I (p.Thr15Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
T15I (p.Thr15Ile) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- gnomAD X-124346686-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.21
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available