A31P (p.Ala31Pro) variant of NTRK2 (Q16620)
A31P (p.Ala31Pro) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autism spectrum disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- rs370304899
- ClinGen CA374004716
- ClinVar RCV002919257
- ClinVar RCV003126260
- Conflicting interpretations
- not provided; Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.75
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autism spectrum disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)