R7H (p.Arg7His) variant of NTRK1 (P04629)
R7H (p.Arg7His) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- gnomAD rs1286464365
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.96
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available