W130R (p.Trp130Arg) variant of MYH6 (Myosin-6)
W130R (p.Trp130Arg) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
W130R (p.Trp130Arg) variant details
- p.Trp130Arg
- Ensembl rs1595064549
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.82
- CADD 27.00
- PolyPhen-2 0.67
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available