P34A (p.Pro34Ala) variant of ELN (Elastin)
P34A (p.Pro34Ala) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- gnomAD rs1554664884
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.35
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available