C42C (p.Cys42Cys) variant of IL7R (P16871)
C42C (p.Cys42Cys) in IL7R (P16871) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C42C (p.Cys42Cys) variant details
- p.Cys42Cys
- rs1759788196
- gnomAD 5-35860895-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.94
- MetaLR 0.55
- MetaSVM 0.05
- CADD 10.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available