A31V (p.Ala31Val) variant of RBM20 (RNA-binding protein 20)
A31V (p.Ala31Val) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD rs1469576570
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- MetaLR 0.41
- MetaSVM -0.60
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available