M38V (p.Met38Val) variant of MYO15A (Unconventional myosin-XV)
M38V (p.Met38Val) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- cosmic curated COSV52759
- gnomAD rs1359300875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 20.20
- PolyPhen-2 0.37
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available