L14V (p.Leu14Val) variant of CSF3R (Q99062)
L14V (p.Leu14Val) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs752051152
- ClinGen CA769600
- cosmic curated COSV58963
- ClinVar RCV001817504
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 19.30
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available