R3Q (p.Arg3Gln) variant of NTRK1 (P04629)
R3Q (p.Arg3Gln) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs777419942
- gnomAD 1-156842154-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.92
- MetaLR 0.39
- MetaSVM -0.12
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available