C57W (p.Cys57Trp) variant of IL7R (P16871)
C57W (p.Cys57Trp) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
C57W (p.Cys57Trp) variant details
- p.Cys57Trp
- gnomAD 5-35860940-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.73
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available