G60S (p.Gly60Ser) variant of ELN (Elastin)
G60S (p.Gly60Ser) in ELN (Elastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- gnomAD 7-74037721-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available