E27A (p.Glu27Ala) variant of CHAMP1 (Q96JM3)
E27A (p.Glu27Ala) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD 13-114323922-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.27
- ESM-1b 0.57
- AlphaMissense 0.54
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available