R3W (p.Arg3Trp) variant of NTRK1 (P04629)
R3W (p.Arg3Trp) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs755716153
- gnomAD 1-156842153-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.89
- MetaLR 0.51
- MetaSVM 0.28
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available