G11V (p.Gly11Val) variant of NTRK1 (P04629)
G11V (p.Gly11Val) in NTRK1 (P04629) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- TOPMed rs994643260
- gnomAD rs994643260
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.56
- CADD 22.40
- PolyPhen-2 0.31
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available