K66T (p.Lys66Thr) variant of CHAMP1 (Q96JM3)
K66T (p.Lys66Thr) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K66T (p.Lys66Thr) variant details
- p.Lys66Thr
- gnomAD 13-114324039-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.15
- MetaSVM -0.85
- CADD 24.00
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Literature evidence available