L99W (p.Leu99Trp) variant of CHAMP1 (Q96JM3)
L99W (p.Leu99Trp) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L99W (p.Leu99Trp) variant details
- p.Leu99Trp
- TOPMed rs1555379363
- gnomAD rs1555379363
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.07
- ESM-1b 0.40
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -0.84
- CADD 23.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available