S14I (p.Ser14Ile) variant of RBM20 (RNA-binding protein 20)
S14I (p.Ser14Ile) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD 10-110644495-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- MetaLR 0.59
- MetaSVM -0.26
- CADD 27.70
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available