S49T (p.Ser49Thr) variant of NTRK2 (Q16620)
S49T (p.Ser49Thr) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S49T (p.Ser49Thr) variant details
- p.Ser49Thr
- gnomAD 9-84670893-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.23
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available