L44V (p.Leu44Val) variant of ABCA3 (Q99758)
L44V (p.Leu44Val) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- TOPMed rs1318403355
- gnomAD rs1318403355
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- CADD 16.00
- PolyPhen-2 0.06
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available