P50R (p.Pro50Arg) variant of CD3E (P07766)
P50R (p.Pro50Arg) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- gnomAD 11-118312663-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.64
- CADD 22.40
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available