A48S (p.Ala48Ser) variant of NCSTN (Nicastrin)
A48S (p.Ala48Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A48S (p.Ala48Ser) variant details
- p.Ala48Ser
- rs775651944
- ClinGen CA343275272
- ClinVar RCV002598358
- ClinVar RCV004065684
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.14
- ESM-1b 0.02
- AlphaMissense 0.11
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)