S19A (p.Ser19Ala) variant of RNF207 (RING finger protein 207)
S19A (p.Ser19Ala) in RNF207 (RING finger protein 207) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- rs1557581081
- gnomAD 1-6206588-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 8.22
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available