R7P (p.Arg7Pro) variant of NTRK1 (P04629)
R7P (p.Arg7Pro) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- gnomAD rs1286464365
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.94
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available