G40R (p.Gly40Arg) variant of ELN (Elastin)
G40R (p.Gly40Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- TOPMed rs1789672664
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.60
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available