A63V (p.Ala63Val) variant of NRXN1 (Neurexin-1)
A63V (p.Ala63Val) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs1007566859
- ClinGen CA48054935
- ClinVar RCV001758909
- ClinVar RCV002540653
- Uncertain significance
- not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.36
- CADD 21.90
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)