H22H (p.His22His) variant of ELN (Elastin)
H22H (p.His22His) in ELN (Elastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H22H (p.His22His) variant details
- p.His22His
- gnomAD 7-74028253-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 13.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available