S32C (p.Ser32Cys) variant of RBM20 (RNA-binding protein 20)
S32C (p.Ser32Cys) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- gnomAD 10-110644549-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- MetaLR 0.41
- MetaSVM -0.45
- CADD 24.50
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available