G28S (p.Gly28Ser) variant of RBM20 (RNA-binding protein 20)
G28S (p.Gly28Ser) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- gnomAD 10-110644536-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.14
- MetaLR 0.41
- MetaSVM -0.57
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available