G8E (p.Gly8Glu) variant of NTRK1 (P04629)
G8E (p.Gly8Glu) in NTRK1 (P04629) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs1221586997
- gnomAD rs1221586997
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -0.96
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available