K96K (p.Lys96Lys) variant of CHAMP1 (Q96JM3)
K96K (p.Lys96Lys) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K96K (p.Lys96Lys) variant details
- p.Lys96Lys
- rs2139418284
- gnomAD 13-114324130-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 8.49
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available