S51W (p.Ser51Trp) variant of IL7R (P16871)
S51W (p.Ser51Trp) in IL7R (P16871) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S51W (p.Ser51Trp) variant details
- p.Ser51Trp
- 1000Genomes rs138482569
- ESP rs138482569
- ExAC rs138482569
- TOPMed rs138482569
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.35
- CADD 21.20
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available