S75F (p.Ser75Phe) variant of CHAMP1 (Q96JM3)
S75F (p.Ser75Phe) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- 1000Genomes rs373952414
- ESP rs373952414
- ExAC rs373952414
- TOPMed rs373952414
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.01
- MetaSVM -0.81
- CADD 25.40
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available