A3V (p.Ala3Val) variant of CHAMP1 (Q96JM3)
A3V (p.Ala3Val) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs2139417912
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.05
- Structural context available