M38T (p.Met38Thr) variant of MYO15A (Unconventional myosin-XV)
M38T (p.Met38Thr) 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.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- gnomAD 17-18118913-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.60
- PolyPhen-2 0.78
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available