A32V (p.Ala32Val) variant of ELN (Elastin)
A32V (p.Ala32Val) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs532388766
- gnomAD 7-74041241-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available