D120A (p.Asp120Ala) variant of NRXN2 (Neurexin-2)
D120A (p.Asp120Ala) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D120A (p.Asp120Ala) variant details
- p.Asp120Ala
- rs1324262269
- ClinGen CA381119460
- cosmic curated COSV55452
- ClinVar RCV000499787
- Conflicting interpretations
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.40
- CADD 24.90
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available