A59L (p.Ala59Leu) variant of CHAMP1 (Q96JM3)
A59L (p.Ala59Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
A59L (p.Ala59Leu) variant details
- p.Ala59Leu
- cosmic curated COSV63523
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available