G36R (p.Gly36Arg) variant of ELN (Elastin)
G36R (p.Gly36Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- gnomAD 7-74035387-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.39
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available