K20K (p.Lys20Lys) variant of CAV3 (Caveolin-3)
K20K (p.Lys20Lys) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K20K (p.Lys20Lys) variant details
- p.Lys20Lys
- rs972788554
- gnomAD 3-8733936-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 11.60
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available