K18K (p.Lys18Lys) variant of MYO15A (Unconventional myosin-XV)
K18K (p.Lys18Lys) in MYO15A (Unconventional myosin-XV) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K18K (p.Lys18Lys) variant details
- p.Lys18Lys
- rs144909486
- gnomAD 17-18118854-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 9.32
- Most common in the HGDP:DRUZE population (allele frequency 0.029)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)