C49G (p.Cys49Gly) variant of CD3E (P07766)
C49G (p.Cys49Gly) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C49G (p.Cys49Gly) variant details
- p.Cys49Gly
- gnomAD 11-118312659-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- MetaLR 0.43
- MetaSVM -0.13
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available