A16T (p.Ala16Thr) variant of NTRK1 (P04629)
A16T (p.Ala16Thr) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs1307887055
- gnomAD 1-156842159-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.91
- MetaLR 0.90
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available