H37Q (p.His37Gln) variant of CHAMP1 (Q96JM3)
H37Q (p.His37Gln) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
H37Q (p.His37Gln) variant details
- p.His37Gln
- cosmic curated COSV10753
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available