Y26H (p.Tyr26His) variant of CHAMP1 (Q96JM3)
Y26H (p.Tyr26His) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y26H (p.Tyr26His) variant details
- p.Tyr26His
- gnomAD 13-114323918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Literature evidence available