K27T (p.Lys27Thr) variant of MYO15A (Unconventional myosin-XV)
K27T (p.Lys27Thr) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K27T (p.Lys27Thr) variant details
- p.Lys27Thr
- gnomAD 17-18118880-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- ESM-1b 0.45
- AlphaMissense 0.90
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available