S19A (p.Ser19Ala) variant of IL7R (P16871)
S19A (p.Ser19Ala) in IL7R (P16871) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- gnomAD 5-35857032-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.84
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available