S55R (p.Ser55Arg) variant of MYO15A (Unconventional myosin-XV)
S55R (p.Ser55Arg) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- ESP rs369442352
- ExAC rs369442352
- TOPMed rs369442352
- gnomAD rs369442352
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.97
- CADD 12.80
- PolyPhen-2 0.88
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available