G48E (p.Gly48Glu) variant of CHAMP1 (Q96JM3)
G48E (p.Gly48Glu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- gnomAD 13-114323985-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Literature evidence available