L53V (p.Leu53Val) variant of NTRK3 (NT-3 growth factor receptor)
L53V (p.Leu53Val) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L53V (p.Leu53Val) variant details
- p.Leu53Val
- ExAC rs753434646
- gnomAD rs753434646
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.30
- CADD 20.20
- PolyPhen-2 0.06
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available