K38K (p.Lys38Lys) variant of SCN2A (Q99250)
K38K (p.Lys38Lys) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K38K (p.Lys38Lys) variant details
- p.Lys38Lys
- rs753614123
- gnomAD 2-165295937-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.52
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available