A2V (p.Ala2Val) variant of ABCA3 (Q99758)
A2V (p.Ala2Val) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- 1000Genomes rs148662935
- ESP rs148662935
- ExAC rs148662935
- TOPMed rs148662935
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- CADD 21.30
- PolyPhen-2 0.16
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available