I35V (p.Ile35Val) variant of CSF3R (Q99062)
I35V (p.Ile35Val) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I35V (p.Ile35Val) variant details
- p.Ile35Val
- rs755370892
- ClinGen CA769566
- ClinVar RCV000768196
- ClinVar RCV003224438
- Uncertain significance
- Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- REVEL 0.05
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Hereditary neutrophilia; Autosomal recessive severe congenital n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)