R7W (p.Arg7Trp) variant of NTRK1 (P04629)
R7W (p.Arg7Trp) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs753223410
- gnomAD 1-156842168-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.91
- MetaLR 0.73
- MetaSVM 0.75
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available