V13L (p.Val13Leu) variant of ACTN2 (Alpha-actinin-2)
V13L (p.Val13Leu) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- gnomAD rs1386246024
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.21
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available