P43L (p.Pro43Leu) variant of SOCS1 (O15524)
P43L (p.Pro43Leu) in SOCS1 (O15524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- cosmic curated COSV10964
- gnomAD rs1369823773
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.01
- CADD 8.67
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available