L53I (p.Leu53Ile) variant of NTRK3 (NT-3 growth factor receptor)
L53I (p.Leu53Ile) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- cosmic curated COSV58146
- ExAC rs753434646
- gnomAD rs753434646
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.28
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available