Q23H (p.Gln23His) variant of PLN (Phospholamban)
Q23H (p.Gln23His) in PLN (Phospholamban) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- gnomAD 6-118558987-ACAAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available