V8L (p.Val8Leu) variant of ACTN2 (Alpha-actinin-2)
V8L (p.Val8Leu) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs551141480
- cosmic curated COSV63972
- ClinGen CA345358093
- ClinVar RCV002446310
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available