H22R (p.His22Arg) variant of ELN (Elastin)
H22R (p.His22Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- gnomAD 7-74028252-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available