V22F (p.Val22Phe) variant of RBM20 (RNA-binding protein 20)
V22F (p.Val22Phe) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V22F (p.Val22Phe) variant details
- p.Val22Phe
- gnomAD 10-110644518-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.48
- CADD 26.00
- PolyPhen-2 0.53
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available