Y10C (p.Tyr10Cys) variant of ACTN2 (Alpha-actinin-2)
Y10C (p.Tyr10Cys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Y10C (p.Tyr10Cys) variant details
- p.Tyr10Cys
- gnomAD rs1464103836
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available