Y79C (p.Tyr79Cys) variant of CHAMP1 (Q96JM3)
Y79C (p.Tyr79Cys) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Y79C (p.Tyr79Cys) variant details
- p.Tyr79Cys
- ExAC rs781883119
- gnomAD rs781883119
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.01
- MetaSVM -0.63
- CADD 26.80
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available