Y26F (p.Tyr26Phe) variant of CHAMP1 (Q96JM3)
Y26F (p.Tyr26Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y26F (p.Tyr26Phe) variant details
- p.Tyr26Phe
- Ensembl rs747725810
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.01
- MetaSVM -0.96
- CADD 25.20
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available