Q18H (p.Gln18His) variant of ABCA3 (Q99758)
Q18H (p.Gln18His) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- TOPMed rs1379570761
- gnomAD rs1379570761
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.14
- CADD 35.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available