K50T (p.Lys50Thr) variant of MYO15A (Unconventional myosin-XV)
K50T (p.Lys50Thr) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- gnomAD 17-18118949-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available