D62N (p.Asp62Asn) variant of PYGM (P11217)
D62N (p.Asp62Asn) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs2058421138
- ClinGen CA381112268
- cosmic curated COSV99376
- ClinVar RCV004440637
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.80
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)