V13F (p.Val13Phe) variant of ELN (Elastin)
V13F (p.Val13Phe) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V13F (p.Val13Phe) variant details
- p.Val13Phe
- gnomAD 7-74028224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available