S1471P (p.Ser1471Pro) variant of MYO7A (Unconventional myosin-VIIa)
S1471P (p.Ser1471Pro) 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 Inborn genetic diseases; Rare genetic deafness; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S1471P (p.Ser1471Pro) variant details
- p.Ser1471Pro
- rs397516310
- ClinGen CA278667
- ClinVar RCV000036143
- ClinVar RCV001852748
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Rare genetic deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Rare genetic deafness; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)