A11T (p.Ala11Thr) variant of NTRK2 (Q16620)
A11T (p.Ala11Thr) in NTRK2 (Q16620) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- cosmic curated COSV52888
- 1000Genomes rs78936193
- ESP rs78936193
- ExAC rs78936193
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available