M38L (p.Met38Leu) variant of MYO15A (Unconventional myosin-XV)
M38L (p.Met38Leu) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- rs1359300875
- ClinGen CA398589435
- ClinVar RCV001915146
- gnomAD rs1359300875
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available