G24E (p.Gly24Glu) variant of SH2D1A (SH2 domain-containing protein 1A)
G24E (p.Gly24Glu) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- gnomAD X-124346713-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available