H13Q (p.His13Gln) variant of NTRK1 (P04629)
H13Q (p.His13Gln) 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.
H13Q (p.His13Gln) variant details
- p.His13Gln
- gnomAD 1-156860973-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.03
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available