V45I (p.Val45Ile) variant of CD3E (P07766)
V45I (p.Val45Ile) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- ExAC rs771023412
- gnomAD rs771023412
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- MetaLR 0.25
- MetaSVM -0.79
- CADD 20.60
- PolyPhen-2 0.41
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available