H13Y (p.His13Tyr) variant of NTRK1 (P04629)
H13Y (p.His13Tyr) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H13Y (p.His13Tyr) variant details
- p.His13Tyr
- gnomAD 1-156860971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.88
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available