P99H (p.Pro99His) variant of MYH6 (Myosin-6)
P99H (p.Pro99His) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P99H (p.Pro99His) variant details
- p.Pro99His
- cosmic curated COSV62450
- TOPMed rs1406034162
- gnomAD rs1406034162
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available