R6G (p.Arg6Gly) variant of NTRK1 (P04629)
R6G (p.Arg6Gly) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 1-156860950-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available