P34H (p.Pro34His) variant of ELN (Elastin)
P34H (p.Pro34His) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- gnomAD 7-74035382-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.46
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available