V72M (p.Val72Met) variant of NOTCH3 (Q9UM47)
V72M (p.Val72Met) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Myofibromatosis, infantile, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V72M (p.Val72Met) variant details
- p.Val72Met
- rs2046938247
- ClinGen CA404535180
- ClinVar RCV001334449
- ClinVar RCV004035779
- Uncertain significance
- Inborn genetic diseases; Myofibromatosis, infantile, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Myofibromatosis, infantile, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)