K43R (p.Lys43Arg) variant of MYH6 (Myosin-6)
K43R (p.Lys43Arg) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- ExAC rs771062327
- gnomAD rs771062327
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available