L7V (p.Leu7Val) variant of ABCA3 (Q99758)
L7V (p.Leu7Val) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- TOPMed rs2093734570
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.50
- CADD 25.10
- PolyPhen-2 0.59
- SIFT 0.01
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available