P40S (p.Pro40Ser) variant of MYH6 (Myosin-6)
P40S (p.Pro40Ser) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- gnomAD rs1220888627
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.50
- CADD 22.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available