V66L (p.Val66Leu) variant of ELN (Elastin)
V66L (p.Val66Leu) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V66L (p.Val66Leu) variant details
- p.Val66Leu
- gnomAD 7-74037739-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.21
- CADD 33.00
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available