L31L (p.Leu31Leu) variant of ACTN2 (Alpha-actinin-2)
L31L (p.Leu31Leu) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs397516586
- gnomAD 1-236686766-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Population evidence available
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)