S75C (p.Ser75Cys) variant of CHAMP1 (Q96JM3)
S75C (p.Ser75Cys) in CHAMP1 (Q96JM3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S75C (p.Ser75Cys) variant details
- p.Ser75Cys
- 1000Genomes rs373952414
- ESP rs373952414
- ExAC rs373952414
- TOPMed rs373952414
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.91
- CADD 17.50
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available