N118K (p.Asn118Lys) variant of CNGA1 (P29973)
N118K (p.Asn118Lys) in CNGA1 (P29973) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N118K (p.Asn118Lys) variant details
- p.Asn118Lys
- rs766955357
- ClinGen CA2911306
- ClinVar RCV002709109
- ExAC rs766955357
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.03
- CADD 4.92
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in dbSNP:rs28642966)
- UniProt: Uncertain significance (in dbSNP:rs28642966)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)