G11C (p.Gly11Cys) variant of NTRK1 (P04629)
G11C (p.Gly11Cys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 1-156860965-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.77
- CADD 19.40
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available