P53H (p.Pro53His) variant of CSF1R (P07333)
P53H (p.Pro53His) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1.
P53H (p.Pro53His) variant details
- p.Pro53His
- rs777789969
- ClinGen CA361737001
- ClinVar RCV001902413
- ExAC rs777789969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.96
- PolyPhen-2 0.41
- SIFT 0.15
- EVE 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance