p.Ala49 Pro50del variant of SOCS1 (O15524)
p.Ala49 Pro50del in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala49 Pro50del variant details
- rs587778691
- gnomAD 16-11255329-GGGGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 22.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available