A11T (p.Ala11Thr) variant of RBM20 (RNA-binding protein 20)
A11T (p.Ala11Thr) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD 10-110644485-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.24
- MetaLR 0.45
- MetaSVM -0.58
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available