G62D (p.Gly62Asp) variant of MYO15A (Unconventional myosin-XV)
G62D (p.Gly62Asp) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- rs1323385240
- ClinGen CA398589641
- ClinVar RCV002602399
- ClinVar RCV006363188
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 26.20
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)