G49E (p.Gly49Glu) variant of CD3D (P04234)
G49E (p.Gly49Glu) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- gnomAD 11-118340503-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.18
- CADD 7.59
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available