A14V (p.Ala14Val) variant of CSF1R (P07333)
A14V (p.Ala14Val) 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 0.25 / 1. The record also includes population frequency data.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs774289908
- ClinGen CA3507318
- ClinVar RCV003678296
- ExAC rs774289908
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)