L4F (p.Leu4Phe) variant of ABCA3 (Q99758)
L4F (p.Leu4Phe) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- ExAC rs748559393
- TOPMed rs748559393
- gnomAD rs748559393
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.12
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.81
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available