H47H (p.His47His) variant of PRMT5 (O14744)
H47H (p.His47His) in PRMT5 (O14744) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- rs767250027
- gnomAD 14-22920720-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 12.30
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available