L11V (p.Leu11Val) variant of ABCA3 (Q99758)
L11V (p.Leu11Val) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- gnomAD rs1370672803
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.66
- CADD 25.20
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available