T33M (p.Thr33Met) variant of MYO15A (Unconventional myosin-XV)
T33M (p.Thr33Met) 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 population frequency data and structural context.
T33M (p.Thr33Met) variant details
- p.Thr33Met
- ExAC rs777015124
- gnomAD rs777015124
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.82
- CADD 23.80
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available