G51S (p.Gly51Ser) variant of MYO15A (Unconventional myosin-XV)
G51S (p.Gly51Ser) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- rs748973041
- ClinGen CA8422770
- cosmic curated COSV52751
- ClinVar RCV003441264
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)