A31S (p.Ala31Ser) variant of NTRK2 (Q16620)
A31S (p.Ala31Ser) in NTRK2 (Q16620) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- ESP rs370304899
- ExAC rs370304899
- TOPMed rs370304899
- gnomAD rs370304899
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.60
- CADD 22.50
- PolyPhen-2 0.77
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available