P39S (p.Pro39Ser) variant of MYH11 (Myosin-11)
P39S (p.Pro39Ser) in MYH11 (Myosin-11) 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 0.67 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- rs761131497
- ExAC rs761131497
- TOPMed rs761131497
- gnomAD rs761131497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.67
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available