Y52I (p.Tyr52Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
Y52I (p.Tyr52Ile) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y52I (p.Tyr52Ile) variant details
- p.Tyr52Ile
- gnomAD X-124365774-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available