V21L (p.Val21Leu) variant of NTRK3 (NT-3 growth factor receptor)
V21L (p.Val21Leu) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- 1000Genomes rs200822610
- ExAC rs200822610
- TOPMed rs200822610
- gnomAD rs200822610
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.41
- EBI: Likely benign (in dbSNP:rs200822610)
- UniProt: Likely benign (in dbSNP:rs200822610)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available