I33S (p.Ile33Ser) variant of MYH6 (Myosin-6)
I33S (p.Ile33Ser) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I33S (p.Ile33Ser) variant details
- p.Ile33Ser
- TOPMed rs1380115013
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.24
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available