G52R (p.Gly52Arg) variant of ELN (Elastin)
G52R (p.Gly52Arg) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- gnomAD rs1554665873
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available