C131Y (p.Cys131Tyr) variant of CSF3R (Q99062)
C131Y (p.Cys131Tyr) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C131Y (p.Cys131Tyr) variant details
- p.Cys131Tyr
- rs777701371
- ClinGen CA769479
- ClinVar RCV001820419
- ExAC rs777701371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available