p.Asp17 His18insPro variant of CHAMP1 (Q96JM3)
p.Asp17 His18insPro in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Asp17 His18insPro variant details
- rs1325048956
- gnomAD 13-114323892-A-AC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 16.90
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available