Y14C (p.Tyr14Cys) variant of ACTN2 (Alpha-actinin-2)
Y14C (p.Tyr14Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- rs1665882020
- ClinGen CA345358165
- ClinVar RCV003296759
- Ensembl rs1665882020
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- CADD 29.40
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available