R7S (p.Arg7Ser) variant of NTRK1 (P04629)
R7S (p.Arg7Ser) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- gnomAD 1-156860953-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.00
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available