P50S (p.Pro50Ser) variant of NTRK2 (Q16620)
P50S (p.Pro50Ser) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs2058658126
- ClinGen CA374004840
- ClinVar RCV002891118
- cosmic curated COSV52866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.90
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available