A34V (p.Ala34Val) variant of RBM20 (RNA-binding protein 20)
A34V (p.Ala34Val) 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.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 10-110644555-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.22
- MetaLR 0.37
- MetaSVM -0.67
- CADD 8.83
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available