Q9K (p.Gln9Lys) variant of NTRK1 (P04629)
Q9K (p.Gln9Lys) in NTRK1 (P04629) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- TOPMed rs80356673
- gnomAD rs80356673
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.85
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available