P10A (p.Pro10Ala) variant of NTRK2 (Q16620)
P10A (p.Pro10Ala) 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 0.40 / 1. The record also includes population frequency data and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs1359560976
- ClinGen CA374004580
- ClinVar RCV003863022
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- CADD 20.40
- PolyPhen-2 0.34
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available