V24L (p.Val24Leu) variant of ABCA3 (Q99758)
V24L (p.Val24Leu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- ExAC rs777247264
- gnomAD rs777247264
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.21
- CADD 18.70
- PolyPhen-2 0.23
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available