R64S (p.Arg64Ser) variant of NRXN1 (Neurexin-1)
R64S (p.Arg64Ser) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Pitt-Hopkins-like syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R64S (p.Arg64Ser) variant details
- p.Arg64Ser
- rs201566733
- ClinGen CA48054934
- ClinVar RCV000649737
- ClinVar RCV001565881
- Conflicting interpretations
- Inborn genetic diseases; Pitt-Hopkins-like syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Pitt-Hopkins-like syndrome 2; not provi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)