N76S (p.Asn76Ser) variant of TECTA (Alpha-tectorin)
N76S (p.Asn76Ser) in TECTA (Alpha-tectorin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs768267586
- ClinGen CA6326457
- ClinVar RCV003370362
- ExAC rs768267586
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.35
- MetaLR 0.37
- MetaSVM -0.39
- CADD 23.50
- PolyPhen-2 0.61
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)