P19L (p.Pro19Leu) variant of NTRK1 (P04629)
P19L (p.Pro19Leu) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 1-156860990-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.01
- CADD 9.24
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available