R10L (p.Arg10Leu) variant of ELN (Elastin)
R10L (p.Arg10Leu) 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.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 7-74037708-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0813
- CADD 0.09
- Population evidence available
- Structural context available
- Literature evidence available