W12R (p.Trp12Arg) variant of NTRK1 (P04629)
W12R (p.Trp12Arg) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- ExAC rs750297580
- gnomAD rs750297580
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.06
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available