V22A (p.Val22Ala) variant of RBM20 (RNA-binding protein 20)
V22A (p.Val22Ala) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- gnomAD 10-110644519-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.26
- MetaLR 0.40
- MetaSVM -0.62
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available