C49F (p.Cys49Phe) variant of CD3E (P07766)
C49F (p.Cys49Phe) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C49F (p.Cys49Phe) variant details
- p.Cys49Phe
- TOPMed rs1423326426
- gnomAD rs1423326426
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- MetaLR 0.45
- MetaSVM -0.12
- CADD 24.30
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available