D104E (p.Asp104Glu) variant of CHAMP1 (Q96JM3)
D104E (p.Asp104Glu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D104E (p.Asp104Glu) variant details
- p.Asp104Glu
- gnomAD 13-114324154-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 1.18
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available