Q6P (p.Gln6Pro) variant of ABCA4 (P78363)
Q6P (p.Gln6Pro) in ABCA4 (P78363) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
Q6P (p.Gln6Pro) variant details
- p.Gln6Pro
- gnomAD rs1662937406
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.91
- CADD 25.80
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available