R3G (p.Arg3Gly) variant of NTRK1 (P04629)
R3G (p.Arg3Gly) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs1655612729
- ClinGen CA342928840
- ClinVar RCV001279993
- ClinVar RCV002542939
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.84
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)