A8V (p.Ala8Val) variant of ELN (Elastin)
A8V (p.Ala8Val) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD 7-74028210-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.21
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available