P88L (p.Pro88Leu) variant of CHAMP1 (Q96JM3)
P88L (p.Pro88Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- ESP rs143111151
- ExAC rs143111151
- TOPMed rs143111151
- gnomAD rs143111151
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.17
- MetaSVM -0.76
- CADD 23.30
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available