V115A (p.Val115Ala) variant of CSF3R (Q99062)
V115A (p.Val115Ala) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V115A (p.Val115Ala) variant details
- p.Val115Ala
- 1000Genomes rs139022075
- ExAC rs139022075
- TOPMed rs139022075
- gnomAD rs139022075
- Likely benign
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- AlphaMissense 0.05
- MetaLR 0.35
- MetaSVM -0.61
- CADD 13.60
- PolyPhen-2 0.00
- ClinVar: Likely benign (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available