K90T (p.Lys90Thr) variant of CHAMP1 (Q96JM3)
K90T (p.Lys90Thr) 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.
K90T (p.Lys90Thr) variant details
- p.Lys90Thr
- gnomAD 13-114324111-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available