V129L (p.Val129Leu) variant of ABCA3 (Q99758)
V129L (p.Val129Leu) 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 0.64 / 1. The record also includes population frequency data and structural context.
V129L (p.Val129Leu) variant details
- p.Val129Leu
- 1000Genomes rs137924161
- ESP rs137924161
- ExAC rs137924161
- TOPMed rs137924161
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.63
- CADD 23.20
- PolyPhen-2 0.50
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available