K18N (p.Lys18Asn) variant of MYH7 (Myosin-7)
K18N (p.Lys18Asn) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- ExAC rs762822176
- TOPMed rs762822176
- gnomAD rs762822176
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.51
- CADD 23.50
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available