S10A (p.Ser10Ala) variant of PLN (Phospholamban)
S10A (p.Ser10Ala) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- gnomAD 6-118558949-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.26
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available