A12V (p.Ala12Val) variant of CSF1R (P07333)
A12V (p.Ala12Val) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD rs1183763649
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)