V49V (p.Val49Val) variant of PLN (Phospholamban)
V49V (p.Val49Val) in PLN (Phospholamban) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- gnomAD 6-118559068-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 7.71
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available