V22A (p.Val22Ala) variant of NTRK2 (Q16620)
V22A (p.Val22Ala) 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 0.11 / 1. The record also includes population frequency data and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- rs772667595
- ClinGen CA5105399
- cosmic curated COSV52878
- ClinVar RCV002032873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.03
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00025)
- Structural context available