A32T (p.Ala32Thr) variant of ELN (Elastin)
A32T (p.Ala32Thr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- ExAC rs782238204
- gnomAD rs782238204
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.43
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available