Q5Q (p.Gln5Gln) variant of PLN (Phospholamban)
Q5Q (p.Gln5Gln) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- gnomAD 6-118558936-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.98
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available