F40F (p.Phe40Phe) variant of CHAMP1 (Q96JM3)
F40F (p.Phe40Phe) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F40F (p.Phe40Phe) variant details
- p.Phe40Phe
- rs1337936279
- gnomAD 13-114323962-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.05
- Population evidence available
- Structural context available
- Literature evidence available