G27V (p.Gly27Val) variant of ELN (Elastin)
G27V (p.Gly27Val) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 7-74028267-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.66
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available