D32N (p.Asp32Asn) variant of MYO7A (Unconventional myosin-VIIa)
D32N (p.Asp32Asn) in MYO7A (Unconventional myosin-VIIa) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs782363121
- ClinGen CA6197024
- ClinVar RCV003215611
- ExAC rs782363121
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.54
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)