A55T (p.Ala55Thr) variant of ELN (Elastin)
A55T (p.Ala55Thr) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- gnomAD 7-74036584-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.08
- CADD 35.00
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available