G31A (p.Gly31Ala) variant of ELN (Elastin)
G31A (p.Gly31Ala) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- gnomAD 7-74041247-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0837
- CADD 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available