L366P (p.Leu366Pro) variant of MYO7A (Unconventional myosin-VIIa)
L366P (p.Leu366Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Retinal dystrophy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L366P (p.Leu366Pro) variant details
- p.Leu366Pro
- rs397516281
- ClinGen CA278619
- ClinVar RCV000036037
- ClinVar RCV000666645
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Retinal dystrophy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.91
- CADD 28.80
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Retinal dystrophy; Inborn genetic disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)