P105L (p.Pro105Leu) variant of CHAMP1 (Q96JM3)
P105L (p.Pro105Leu) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P105L (p.Pro105Leu) variant details
- p.Pro105Leu
- cosmic curated COSV63523
- TOPMed rs1307674136
- gnomAD rs1307674136
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.90
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available