G54V (p.Gly54Val) variant of ELN (Elastin)
G54V (p.Gly54Val) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- TOPMed rs1412123803
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available