V129A (p.Val129Ala) variant of ABCA3 (Q99758)
V129A (p.Val129Ala) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V129A (p.Val129Ala) variant details
- p.Val129Ala
- ExAC rs747691941
- gnomAD rs747691941
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.76
- CADD 24.60
- PolyPhen-2 0.60
- SIFT 0.02
- Population evidence available
- Structural context available