C11Y (p.Cys11Tyr) variant of NRXN1 (Neurexin-1)
C11Y (p.Cys11Tyr) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- rs796052766
- ClinGen CA316083
- ClinVar RCV000188246
- ClinVar RCV001315923
- Uncertain significance
- Inborn genetic diseases; not provided; Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.52
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Pitt-Hopkins-like syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)