A16P (p.Ala16Pro) variant of NTRK1 (P04629)
A16P (p.Ala16Pro) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- rs1307887055
- gnomAD 1-156842159-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.88
- MetaLR 0.69
- MetaSVM 0.41
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available