T36P (p.Thr36Pro) variant of NCF4 (Neutrophil cytosol factor 4)
T36P (p.Thr36Pro) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T36P (p.Thr36Pro) variant details
- p.Thr36Pro
- rs200818199
- ClinGen CA10212845
- cosmic curated COSV50620
- ClinVar RCV000990432
- Likely benign
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.26
- MetaLR 0.14
- MetaSVM -0.81
- CADD 24.60
- PolyPhen-2 0.80
- SIFT 0.06
- ClinVar: Likely benign (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)