A12E (p.Ala12Glu) variant of CHAMP1 (Q96JM3)
A12E (p.Ala12Glu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- gnomAD 13-114323877-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available