P21S (p.Pro21Ser) variant of CSF1R (P07333)
P21S (p.Pro21Ser) 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 0.77 / 1. The record also includes population frequency data.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs757795589
- ClinGen CA3507291
- cosmic curated COSV99036
- ClinVar RCV001919088
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)