P48Q (p.Pro48Gln) variant of SOCS1 (O15524)
P48Q (p.Pro48Gln) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- gnomAD 16-11255336-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available