W12C (p.Trp12Cys) variant of NTRK1 (P04629)
W12C (p.Trp12Cys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- gnomAD rs1210177714
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.70
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available