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 0.64 / 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 0.642
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.69
- MetaSVM 0.40
- CADD 23.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available