V21F (p.Val21Phe) variant of NTRK3 (NT-3 growth factor receptor)
V21F (p.Val21Phe) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- rs200822610
- ClinGen CA7717427
- cosmic curated COSV58110
- ClinVar RCV000892087
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs200822610)
- UniProt: Likely benign (in dbSNP:rs200822610)
- Most common in the 1KG:JPT population (allele frequency 0.02)
- Structural context available
- Cited in: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. (PMID 25196463)