H53P (p.His53Pro) variant of IL7R (P16871)
H53P (p.His53Pro) 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.
H53P (p.His53Pro) variant details
- p.His53Pro
- gnomAD 5-35860927-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.62
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available