P26L (p.Pro26Leu) variant of MYO15A (Unconventional myosin-XV)
P26L (p.Pro26Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs866958211
- ClinGen CA288413117
- ClinVar RCV002809784
- Ensembl rs866958211
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- ESM-1b 0.40
- AlphaMissense 0.81
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)