L28Q (p.Leu28Gln) variant of NTRK1 (P04629)
L28Q (p.Leu28Gln) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L28Q (p.Leu28Gln) variant details
- p.Leu28Gln
- gnomAD 1-156861017-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.20
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available