R3P (p.Arg3Pro) variant of NTRK1 (P04629)
R3P (p.Arg3Pro) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- TOPMed rs1655612857
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.26
- MetaLR 0.17
- MetaSVM -0.90
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available