P48T (p.Pro48Thr) variant of SOCS1 (O15524)
P48T (p.Pro48Thr) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- gnomAD 16-11255337-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.00
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available