V13A (p.Val13Ala) variant of ELN (Elastin)
V13A (p.Val13Ala) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- gnomAD rs1319397320
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.24
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available