N34K (p.Asn34Lys) variant of NCSTN (Nicastrin)
N34K (p.Asn34Lys) in NCSTN (Nicastrin) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- rs758241361
- ClinGen CA1198602
- ClinVar RCV001885548
- ClinVar RCV002545763
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 22.50
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)