T23I (p.Thr23Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
T23I (p.Thr23Ile) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD X-124346710-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.56
- CADD 16.70
- PolyPhen-2 0.18
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available