L49Q (p.Leu49Gln) variant of CHAMP1 (Q96JM3)
L49Q (p.Leu49Gln) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L49Q (p.Leu49Gln) variant details
- p.Leu49Gln
- TOPMed rs2087204573
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.03
- MetaSVM -1.03
- CADD 25.90
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available