K3N (p.Lys3Asn) variant of MYO15A (Unconventional myosin-XV)
K3N (p.Lys3Asn) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K3N (p.Lys3Asn) variant details
- p.Lys3Asn
- ExAC rs765264486
- gnomAD rs765264486
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 21.10
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available