D23D (p.Asp23Asp) variant of CD3E (P07766)
D23D (p.Asp23Asp) in CD3E (P07766) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D23D (p.Asp23Asp) variant details
- p.Asp23Asp
- gnomAD 11-118307307-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.216
- AlphaMissense 0.16
- MetaLR 0.49
- MetaSVM -0.08
- CADD 0.01
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available