L47S (p.Leu47Ser) variant of CD3E (P07766)
L47S (p.Leu47Ser) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L47S (p.Leu47Ser) variant details
- p.Leu47Ser
- gnomAD 11-118312654-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.43
- MetaLR 0.39
- MetaSVM -0.58
- CADD 23.70
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available