A33D (p.Ala33Asp) variant of CSF3R (Q99062)
A33D (p.Ala33Asp) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- rs772847527
- ClinGen CA769570
- ClinVar RCV002944121
- ClinVar RCV003269366
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.35
- CADD 13.40
- PolyPhen-2 0.58
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive severe congenital n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0001)
- 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)