T33K (p.Thr33Lys) variant of MYO15A (Unconventional myosin-XV)
T33K (p.Thr33Lys) 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 0.53 / 1. The record also includes population frequency data and structural context.
T33K (p.Thr33Lys) variant details
- p.Thr33Lys
- ExAC rs777015124
- gnomAD rs777015124
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available