Y79F (p.Tyr79Phe) variant of CHAMP1 (Q96JM3)
Y79F (p.Tyr79Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y79F (p.Tyr79Phe) variant details
- p.Tyr79Phe
- ExAC rs781883119
- gnomAD rs781883119
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -0.66
- CADD 25.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available