T53M (p.Thr53Met) variant of SH2D1A (SH2 domain-containing protein 1A)
T53M (p.Thr53Met) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T53M (p.Thr53Met) variant details
- p.Thr53Met
- rs765804146
- gnomAD X-124365767-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 6.12
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available
- Literature evidence available