Q61E (p.Gln61Glu) variant of VPS13C (Q709C8)
Q61E (p.Gln61Glu) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q61E (p.Gln61Glu) variant details
- p.Gln61Glu
- gnomAD rs2048234754
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM 0.30
- CADD 26.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available