A54S (p.Ala54Ser) variant of NTRK2 (Q16620)
A54S (p.Ala54Ser) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- gnomAD 9-84670908-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.38
- CADD 20.30
- PolyPhen-2 0.05
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available