A56T (p.Ala56Thr) variant of MYO15A (Unconventional myosin-XV)
A56T (p.Ala56Thr) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- cosmic curated COSV52768
- ExAC rs748573149
- TOPMed rs748573149
- gnomAD rs748573149
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.48
- CADD 18.00
- PolyPhen-2 0.40
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available