H22Y (p.His22Tyr) variant of ELN (Elastin)
H22Y (p.His22Tyr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- ExAC rs782761490
- gnomAD rs782761490
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.31
- CADD 23.90
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available