T88N (p.Thr88Asn) variant of CSF3R (Q99062)
T88N (p.Thr88Asn) 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; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T88N (p.Thr88Asn) variant details
- p.Thr88Asn
- rs772516569
- ClinGen CA769527
- ClinVar RCV003755061
- ExAC rs772516569
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.44
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available