V32A (p.Val32Ala) variant of CSF1R (P07333)
V32A (p.Val32Ala) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- 1000Genomes rs56048668
- ESP rs56048668
- ExAC rs56048668
- TOPMed rs56048668
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in dbSNP:rs56048668)
- UniProt: Benign (in dbSNP:rs56048668)
- Most common in the REMAINING population (allele frequency 1.7e-05)