S14G (p.Ser14Gly) variant of RBM20 (RNA-binding protein 20)
S14G (p.Ser14Gly) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- gnomAD 10-110644494-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.29
- MetaLR 0.49
- MetaSVM -0.48
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available