P40L (p.Pro40Leu) variant of MYH6 (Myosin-6)
P40L (p.Pro40Leu) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- ExAC rs775038703
- gnomAD rs775038703
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.62
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available