A2V (p.Ala2Val) variant of CSF3R (Q99062)
A2V (p.Ala2Val) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1440439440
- Missense
- Variant Prioritization Score for Impact Estimate 0.0775
- REVEL 0.05
- CADD 6.01
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available