T41M (p.Thr41Met) variant of NRXN1 (Neurexin-1)
T41M (p.Thr41Met) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T41M (p.Thr41Met) variant details
- p.Thr41Met
- rs995509296
- ClinGen CA48054940
- NCI-TCGA Cosmic COSV6800
- cosmic curated COSV68003
- Uncertain significance
- Pitt-Hopkins-like syndrome 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.44
- CADD 26.60
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- 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)