P48A (p.Pro48Ala) variant of SOCS1 (O15524)
P48A (p.Pro48Ala) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- cosmic curated COSV10524
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.03
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available