A64D (p.Ala64Asp) variant of NOTCH3 (Q9UM47)
A64D (p.Ala64Asp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A64D (p.Ala64Asp) variant details
- p.Ala64Asp
- rs148932488
- ClinGen CA9263975
- ClinVar RCV002721943
- ClinVar RCV004642017
- Conflicting interpretations
- not specified; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00068)
- 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)