P40R (p.Pro40Arg) variant of MYH6 (Myosin-6)
P40R (p.Pro40Arg) 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.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- ExAC rs775038703
- gnomAD rs775038703
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available