F23L (p.Phe23Leu) variant of DCC (Netrin receptor DCC)
F23L (p.Phe23Leu) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Gaze palsy, familial horizontal, with progressive scoliosis, 2; not provided; Mi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- rs9951523
- ClinGen CA8966444
- ClinVar RCV001661359
- ClinVar RCV001661360
- Benign
- Gaze palsy, familial horizontal, with progressive scoliosis, 2; not provided; Mi
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.10
- MetaLR 0.00
- MetaSVM -0.97
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Gaze palsy, familial horizontal, with progressive scoliosis, 2;)
- EBI: Benign (in dbSNP:rs9951523)
- UniProt: Benign (in dbSNP:rs9951523)
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Cited in: Identification of a chromosome 18q gene that is altered in colorectal cancers. (PMID 2294591)
- Cited in: The DCC gene product in cellular differentiation and colorectal tumorigenesis. (PMID 7926722)