P95S (p.Pro95Ser) variant of CHAMP1 (Q96JM3)
P95S (p.Pro95Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P95S (p.Pro95Ser) variant details
- p.Pro95Ser
- ExAC rs782652629
- TOPMed rs782652629
- gnomAD rs782652629
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.99
- CADD 15.60
- Most common in the Amish population (allele frequency 1)
- Structural context available