F110L (p.Phe110Leu) variant of ABCA3 (Q99758)
F110L (p.Phe110Leu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F110L (p.Phe110Leu) variant details
- p.Phe110Leu
- gnomAD rs1411608435
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available