R106S (p.Arg106Ser) variant of MYH11 (Myosin-11)
R106S (p.Arg106Ser) in MYH11 (Myosin-11) 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 0.74 / 1. The record also includes population frequency data and structural context.
R106S (p.Arg106Ser) variant details
- p.Arg106Ser
- ExAC rs747859212
- TOPMed rs747859212
- gnomAD rs747859212
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.73
- CADD 22.30
- PolyPhen-2 0.81
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available