K52K (p.Lys52Lys) variant of ACTC1 (Actin, alpha cardiac muscle 1)
K52K (p.Lys52Lys) in ACTC1 (Actin, alpha cardiac muscle 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- gnomAD 15-34793543-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 13.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available