S34L (p.Ser34Leu) variant of MYO15A (Unconventional myosin-XV)
S34L (p.Ser34Leu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S34L (p.Ser34Leu) variant details
- p.Ser34Leu
- gnomAD rs1215855230
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available