G60D (p.Gly60Asp) variant of ELN (Elastin)
G60D (p.Gly60Asp) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- gnomAD 7-74037722-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.30
- CADD 16.30
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available